Canonical Allele Identifier: CA5293683

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2043247
• ClinVar RCV Id: RCV002908545
• dbSNP Id: rs780352664
• ExAC: 9:134394238 C / T
• gnomAD v2: 9-134394238-C-T
• gnomAD v4: 9-131518851-C-T
• MyVariant Identifiers: chr9:g.134394238C>T (hg19) ; chr9:g.131518851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518851C>T , CM000671.2:g.131518851C>T	GRCh38
NC_000009.11:g.134394238C>T , CM000671.1:g.134394238C>T	GRCh37
NC_000009.10:g.133384059C>T	NCBI36
NG_008896.1:g.20950C>T
NG_008896.2:g.20950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1218C>T	ENSP00000343034.7:p.His406=
ENST00000404875.7:n.1920C>T
ENST00000423007.6:c.1437C>T	ENSP00000404119.2:p.His479=
ENST00000677295.2:c.*1724C>T	ENSP00000504346.2:n.*1724C>T
ENST00000678264.2:c.*1563C>T	ENSP00000503157.2:n.*1563C>T
ENST00000682070.1:n.1845C>T
ENST00000682539.1:c.318C>T
ENST00000682813.1:n.1784C>T
ENST00000683392.1:n.4127C>T
ENST00000683712.1:n.1785C>T
ENST00000683900.1:n.3280C>T
ENST00000684062.1:n.2046C>T
ENST00000684579.1:n.3226C>T
ENST00000684679.1:n.607C>T
ENST00000341012.12:c.1218C>T	ENSP00000343034.7:p.His406=
ENST00000372220.5:c.249C>T	ENSP00000361294.5:p.His83=
ENST00000372228.9:c.1446C>T	ENSP00000361302.3:p.His482=
ENST00000402686.8:c.1380C>T MANE Select	ENSP00000385797.4:p.His460=
ENST00000676640.1:c.1380C>T	ENSP00000503281.1:p.His460=
ENST00000676803.1:c.555C>T	ENSP00000503093.1:p.His185=
ENST00000676835.1:c.*595C>T	ENSP00000502911.1:n.*595C>T
ENST00000677029.1:c.924C>T	ENSP00000502936.1:p.His308=
ENST00000677099.1:c.*1090C>T	ENSP00000504553.1:n.*1090C>T
ENST00000677216.1:c.1029C>T	ENSP00000503772.1:p.His343=
ENST00000677221.1:n.405C>T
ENST00000677295.1:c.*757C>T	ENSP00000504346.1:n.*757C>T
ENST00000677444.1:c.1325C>T
ENST00000677586.1:n.861C>T
ENST00000677626.1:c.1029C>T	ENSP00000503552.1:p.His343=
ENST00000677677.1:n.1340C>T
ENST00000677853.1:c.*388C>T	ENSP00000503488.1:n.*388C>T
ENST00000678202.1:n.539C>T
ENST00000678264.1:c.*757C>T	ENSP00000503157.1:n.*757C>T
ENST00000678303.1:c.1290C>T	ENSP00000503696.1:p.His430=
ENST00000678366.1:c.*1629C>T	ENSP00000504353.1:n.*1629C>T
ENST00000678546.1:c.*1325C>T	ENSP00000503062.1:n.*1325C>T
ENST00000678548.1:c.*1452C>T	ENSP00000503934.1:n.*1452C>T
ENST00000678626.1:n.1216C>T
ENST00000678733.1:c.461C>T
ENST00000678739.1:c.*1706C>T	ENSP00000503806.1:n.*1706C>T
ENST00000678833.1:c.*827C>T	ENSP00000503893.1:n.*827C>T
ENST00000679023.1:c.1218C>T	ENSP00000503718.1:p.His406=
ENST00000679076.1:c.999C>T
ENST00000679111.1:c.*136C>T	ENSP00000504257.1:n.*136C>T
ENST00000679189.1:c.1029C>T	ENSP00000503356.1:p.His343=
ENST00000341012.11:c.1218C>T	ENSP00000343034.7:p.His406=
ENST00000372220.4:c.243C>T	ENSP00000361294.4:p.His81=
ENST00000372228.7:c.1446C>T	ENSP00000361302.3:p.His482=
ENST00000402686.7:c.1380C>T	ENSP00000385797.3:p.His460=
ENST00000404875.6:c.1029C>T	ENSP00000384531.2:p.His343=
ENST00000423007.5:c.1380C>T	ENSP00000404119.1:p.His460=
ENST00000467848.1:n.84C>T
ENST00000485278.5:n.1935C>T
NM_001077365.1:c.1380C>T	NP_001070833.1:p.His460=
NM_001077366.1:c.1218C>T	NP_001070834.1:p.His406=
NM_001136113.1:c.1380C>T	NP_001129585.1:p.His460=
NM_001136114.1:c.1029C>T	NP_001129586.1:p.His343=
NM_007171.3:c.1446C>T	NP_009102.3:p.His482=
XM_005272156.1:c.1446C>T	XP_005272213.1:p.His482=
XM_005272158.1:c.1284C>T	XP_005272215.1:p.His428=
XM_005272159.1:c.1095C>T	XP_005272216.1:p.His365=
XM_005272162.1:c.249C>T	XP_005272219.1:p.His83=
XM_006716932.1:c.1095C>T	XP_006716995.1:p.His365=
XM_011518140.1:c.1299C>T	XP_011516442.1:p.His433=
XM_011518141.1:c.1233C>T	XP_011516443.1:p.His411=
XM_011518142.1:c.1137C>T	XP_011516444.1:p.His379=
XM_011518143.1:c.1131C>T	XP_011516445.1:p.His377=
XM_011518144.1:c.*136C>T	XP_011516446.1:n.*136C>T
XM_011518145.1:c.990C>T	XP_011516447.1:p.His330=
XM_011518146.1:c.*136C>T	XP_011516448.1:n.*136C>T
XM_011518147.1:c.318C>T	XP_011516449.1:p.His106=
XR_929703.1:n.1622C>T
NM_001353193.1:c.1446C>T	NP_001340122.1:p.His482=
NM_001353194.1:c.1218C>T	NP_001340123.1:p.His406=
NM_001353195.1:c.1029C>T	NP_001340124.1:p.His343=
NM_001353196.1:c.1290C>T	NP_001340125.1:p.His430=
NM_001353197.1:c.1284C>T	NP_001340126.1:p.His428=
NM_001353198.1:c.1284C>T	NP_001340127.1:p.His428=
NM_001353199.1:c.1095C>T	NP_001340128.1:p.His365=
NM_001353200.1:c.924C>T	NP_001340129.1:p.His308=
NR_148391.1:n.1430C>T
NR_148392.1:n.1648C>T
NR_148393.1:n.1569C>T
NR_148394.1:n.1323C>T
NR_148395.1:n.1721C>T
NR_148396.1:n.1355C>T
NR_148397.1:n.1480C>T
NR_148398.1:n.1435C>T
NR_148399.1:n.1961C>T
NR_148400.1:n.1560C>T
XM_005272162.3:c.249C>T	XP_005272219.1:p.His83=
XM_006716932.2:c.1095C>T	XP_006716995.1:p.His365=
XM_011518140.2:c.1299C>T	XP_011516442.1:p.His433=
XM_011518141.2:c.1233C>T	XP_011516443.1:p.His411=
XM_011518142.2:c.1137C>T	XP_011516444.1:p.His379=
XM_011518143.2:c.1131C>T	XP_011516445.1:p.His377=
XM_011518145.2:c.990C>T	XP_011516447.1:p.His330=
XM_017014205.2:c.249C>T	XP_016869694.1:p.His83=
XM_024447380.1:c.249C>T	XP_024303148.1:p.His83=
XM_024447381.1:c.555C>T	XP_024303149.1:p.His185=
XM_024447382.1:c.249C>T	XP_024303150.1:p.His83=
XR_001746160.2:n.1550C>T
XR_001746162.2:n.1755C>T
XR_001746164.1:n.1472C>T
XR_001746166.2:n.1767C>T
NM_001077365.2:c.1380C>T MANE Select	NP_001070833.1:p.His460=
NM_001077366.2:c.1218C>T	NP_001070834.1:p.His406=
NM_001136113.2:c.1380C>T	NP_001129585.1:p.His460=
NM_001136114.2:c.1029C>T	NP_001129586.1:p.His343=
NM_001353193.2:c.1446C>T	NP_001340122.2:p.His482=
NM_001353194.2:c.1218C>T	NP_001340123.1:p.His406=
NM_001353195.2:c.1029C>T	NP_001340124.1:p.His343=
NM_001353196.2:c.1290C>T	NP_001340125.1:p.His430=
NM_001353197.2:c.1284C>T	NP_001340126.2:p.His428=
NM_001353198.2:c.1284C>T	NP_001340127.2:p.His428=
NM_001353199.2:c.1095C>T	NP_001340128.2:p.His365=
NM_001353200.2:c.924C>T	NP_001340129.1:p.His308=
NM_001374689.1:c.1368C>T	NP_001361618.1:p.His456=
NM_001374690.1:c.1365+314C>T	NP_001361619.1:n.1365+314C>T
NM_001374691.1:c.1029C>T	NP_001361620.1:p.His343=
NM_001374692.1:c.1029C>T	NP_001361621.1:p.His343=
NM_001374693.1:c.1029C>T	NP_001361622.1:p.His343=
NM_001374695.1:c.990C>T	NP_001361624.1:p.His330=
NM_007171.4:c.1446C>T	NP_009102.4:p.His482=
NR_148391.2:n.1414C>T
NR_148392.2:n.1632C>T
NR_148393.2:n.1553C>T
NR_148394.2:n.1307C>T
NR_148395.2:n.1705C>T
NR_148396.2:n.1339C>T
NR_148397.2:n.1464C>T
NR_148398.2:n.1419C>T
NR_148399.2:n.1945C>T
NR_148400.2:n.1544C>T