Canonical Allele Identifier: CA375311567

Gene: POMT1

Linked Data

• ClinVar Variation Id: 471374
• ClinVar RCV Id: RCV000548536 ; RCV003476298
• dbSNP Id: rs1554780670
• MyVariant Identifiers: chr9:g.134393920T>G (hg19) ; chr9:g.131518533T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518533T>G , CM000671.2:g.131518533T>G	GRCh38
NC_000009.11:g.134393920T>G , CM000671.1:g.134393920T>G	GRCh37
NC_000009.10:g.133383741T>G	NCBI36
NG_008896.1:g.20632T>G
NG_008896.2:g.20632T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1199T>G	ENSP00000343034.7:p.Leu400Ter
ENST00000404875.7:n.1901T>G
ENST00000423007.6:c.1418T>G	ENSP00000404119.2:p.Leu473Ter
ENST00000677295.2:c.*1705T>G	ENSP00000504346.2:n.*1705T>G
ENST00000678264.2:c.*1544T>G	ENSP00000503157.2:n.*1544T>G
ENST00000682070.1:n.1826T>G
ENST00000682535.1:n.133T>G
ENST00000682539.1:c.299T>G
ENST00000682813.1:n.1626T>G
ENST00000683110.1:n.89T>G
ENST00000683392.1:n.4108T>G
ENST00000683712.1:n.1766T>G
ENST00000683900.1:n.3261T>G
ENST00000684062.1:n.2027T>G
ENST00000684579.1:n.3207T>G
ENST00000684679.1:n.588T>G
ENST00000341012.12:c.1199T>G	ENSP00000343034.7:p.Leu400Ter
ENST00000372220.5:c.230T>G	ENSP00000361294.5:p.Leu77Ter
ENST00000372228.9:c.1427T>G	ENSP00000361302.3:p.Leu476Ter
ENST00000402686.8:c.1361T>G MANE Select	ENSP00000385797.4:p.Leu454Ter
ENST00000676640.1:c.1361T>G	ENSP00000503281.1:p.Leu454Ter
ENST00000676803.1:c.536T>G	ENSP00000503093.1:p.Leu179Ter
ENST00000676835.1:c.*576T>G	ENSP00000502911.1:n.*576T>G
ENST00000677029.1:c.905T>G	ENSP00000502936.1:p.Leu302Ter
ENST00000677099.1:c.*1071T>G	ENSP00000504553.1:n.*1071T>G
ENST00000677216.1:c.1010T>G	ENSP00000503772.1:p.Leu337Ter
ENST00000677221.1:n.386T>G
ENST00000677295.1:c.*738T>G	ENSP00000504346.1:n.*738T>G
ENST00000677444.1:c.1167T>G
ENST00000677586.1:n.842T>G
ENST00000677626.1:c.1010T>G	ENSP00000503552.1:p.Leu337Ter
ENST00000677677.1:n.1321T>G
ENST00000677853.1:c.*369T>G	ENSP00000503488.1:n.*369T>G
ENST00000677983.1:n.450T>G
ENST00000678202.1:n.381T>G
ENST00000678264.1:c.*738T>G	ENSP00000503157.1:n.*738T>G
ENST00000678303.1:c.1271T>G	ENSP00000503696.1:p.Leu424Ter
ENST00000678366.1:c.*1610T>G	ENSP00000504353.1:n.*1610T>G
ENST00000678546.1:c.*1306T>G	ENSP00000503062.1:n.*1306T>G
ENST00000678548.1:c.*1433T>G	ENSP00000503934.1:n.*1433T>G
ENST00000678626.1:n.1058T>G
ENST00000678733.1:c.442T>G
ENST00000678739.1:c.*1687T>G	ENSP00000503806.1:n.*1687T>G
ENST00000678795.1:n.448T>G
ENST00000678833.1:c.*808T>G	ENSP00000503893.1:n.*808T>G
ENST00000678942.1:c.541T>G	ENSP00000504690.1:n.541T>G
ENST00000679023.1:c.1199T>G	ENSP00000503718.1:p.Leu400Ter
ENST00000679076.1:c.980T>G
ENST00000679111.1:c.1361T>G	ENSP00000504257.1:p.Leu454Ter
ENST00000679189.1:c.1010T>G	ENSP00000503356.1:p.Leu337Ter
ENST00000341012.11:c.1199T>G	ENSP00000343034.7:p.Leu400Ter
ENST00000372220.4:c.224T>G	ENSP00000361294.4:p.Leu75Ter
ENST00000372228.7:c.1427T>G	ENSP00000361302.3:p.Leu476Ter
ENST00000402686.7:c.1361T>G	ENSP00000385797.3:p.Leu454Ter
ENST00000404875.6:c.1010T>G	ENSP00000384531.2:p.Leu337Ter
ENST00000423007.5:c.1361T>G	ENSP00000404119.1:p.Leu454Ter
ENST00000485278.5:n.1916T>G
NM_001077365.1:c.1361T>G	NP_001070833.1:p.Leu454Ter
NM_001077366.1:c.1199T>G	NP_001070834.1:p.Leu400Ter
NM_001136113.1:c.1361T>G	NP_001129585.1:p.Leu454Ter
NM_001136114.1:c.1010T>G	NP_001129586.1:p.Leu337Ter
NM_007171.3:c.1427T>G	NP_009102.3:p.Leu476Ter
XM_005272156.1:c.1427T>G	XP_005272213.1:p.Leu476Ter
XM_005272158.1:c.1265T>G	XP_005272215.1:p.Leu422Ter
XM_005272159.1:c.1076T>G	XP_005272216.1:p.Leu359Ter
XM_005272162.1:c.230T>G	XP_005272219.1:p.Leu77Ter
XM_006716932.1:c.1076T>G	XP_006716995.1:p.Leu359Ter
XM_011518140.1:c.1280T>G	XP_011516442.1:p.Leu427Ter
XM_011518141.1:c.1214T>G	XP_011516443.1:p.Leu405Ter
XM_011518142.1:c.1118T>G	XP_011516444.1:p.Leu373Ter
XM_011518143.1:c.1112T>G	XP_011516445.1:p.Leu371Ter
XM_011518144.1:c.1427T>G	XP_011516446.1:p.Leu476Ter
XM_011518145.1:c.971T>G	XP_011516447.1:p.Leu324Ter
XM_011518146.1:c.1112T>G	XP_011516448.1:p.Leu371Ter
XM_011518147.1:c.299T>G	XP_011516449.1:p.Leu100Ter
XR_929703.1:n.1603T>G
NM_001353193.1:c.1427T>G	NP_001340122.1:p.Leu476Ter
NM_001353194.1:c.1199T>G	NP_001340123.1:p.Leu400Ter
NM_001353195.1:c.1010T>G	NP_001340124.1:p.Leu337Ter
NM_001353196.1:c.1271T>G	NP_001340125.1:p.Leu424Ter
NM_001353197.1:c.1265T>G	NP_001340126.1:p.Leu422Ter
NM_001353198.1:c.1265T>G	NP_001340127.1:p.Leu422Ter
NM_001353199.1:c.1076T>G	NP_001340128.1:p.Leu359Ter
NM_001353200.1:c.905T>G	NP_001340129.1:p.Leu302Ter
NR_148391.1:n.1411T>G
NR_148392.1:n.1629T>G
NR_148393.1:n.1411T>G
NR_148394.1:n.1304T>G
NR_148395.1:n.1563T>G
NR_148396.1:n.1197T>G
NR_148397.1:n.1461T>G
NR_148398.1:n.1416T>G
NR_148399.1:n.1803T>G
NR_148400.1:n.1402T>G
XM_005272162.3:c.230T>G	XP_005272219.1:p.Leu77Ter
XM_006716932.2:c.1076T>G	XP_006716995.1:p.Leu359Ter
XM_011518140.2:c.1280T>G	XP_011516442.1:p.Leu427Ter
XM_011518141.2:c.1214T>G	XP_011516443.1:p.Leu405Ter
XM_011518142.2:c.1118T>G	XP_011516444.1:p.Leu373Ter
XM_011518143.2:c.1112T>G	XP_011516445.1:p.Leu371Ter
XM_011518145.2:c.971T>G	XP_011516447.1:p.Leu324Ter
XM_017014205.2:c.230T>G	XP_016869694.1:p.Leu77Ter
XM_024447380.1:c.230T>G	XP_024303148.1:p.Leu77Ter
XM_024447381.1:c.536T>G	XP_024303149.1:p.Leu179Ter
XM_024447382.1:c.230T>G	XP_024303150.1:p.Leu77Ter
XR_001746160.2:n.1531T>G
XR_001746162.2:n.1597T>G
XR_001746164.1:n.1314T>G
XR_001746166.2:n.1748T>G
NM_001077365.2:c.1361T>G MANE Select	NP_001070833.1:p.Leu454Ter
NM_001077366.2:c.1199T>G	NP_001070834.1:p.Leu400Ter
NM_001136113.2:c.1361T>G	NP_001129585.1:p.Leu454Ter
NM_001136114.2:c.1010T>G	NP_001129586.1:p.Leu337Ter
NM_001353193.2:c.1427T>G	NP_001340122.2:p.Leu476Ter
NM_001353194.2:c.1199T>G	NP_001340123.1:p.Leu400Ter
NM_001353195.2:c.1010T>G	NP_001340124.1:p.Leu337Ter
NM_001353196.2:c.1271T>G	NP_001340125.1:p.Leu424Ter
NM_001353197.2:c.1265T>G	NP_001340126.2:p.Leu422Ter
NM_001353198.2:c.1265T>G	NP_001340127.2:p.Leu422Ter
NM_001353199.2:c.1076T>G	NP_001340128.2:p.Leu359Ter
NM_001353200.2:c.905T>G	NP_001340129.1:p.Leu302Ter
NM_001374689.1:c.1349T>G	NP_001361618.1:p.Leu450Ter
NM_001374690.1:c.1361T>G	NP_001361619.1:p.Leu454Ter
NM_001374691.1:c.1010T>G	NP_001361620.1:p.Leu337Ter
NM_001374692.1:c.1010T>G	NP_001361621.1:p.Leu337Ter
NM_001374693.1:c.1010T>G	NP_001361622.1:p.Leu337Ter
NM_001374695.1:c.971T>G	NP_001361624.1:p.Leu324Ter
NM_007171.4:c.1427T>G	NP_009102.4:p.Leu476Ter
NR_148391.2:n.1395T>G
NR_148392.2:n.1613T>G
NR_148393.2:n.1395T>G
NR_148394.2:n.1288T>G
NR_148395.2:n.1547T>G
NR_148396.2:n.1181T>G
NR_148397.2:n.1445T>G
NR_148398.2:n.1400T>G
NR_148399.2:n.1787T>G
NR_148400.2:n.1386T>G