Canonical Allele Identifier: CA375311464

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1980743
• ClinVar RCV Id: RCV002780330
• MyVariant Identifiers: chr9:g.134393905A>G (hg19) ; chr9:g.131518518A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518518A>G , CM000671.2:g.131518518A>G	GRCh38
NC_000009.11:g.134393905A>G , CM000671.1:g.134393905A>G	GRCh37
NC_000009.10:g.133383726A>G	NCBI36
NG_008896.1:g.20617A>G
NG_008896.2:g.20617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1184A>G	ENSP00000343034.7:p.Asn395Ser
ENST00000404875.7:n.1886A>G
ENST00000423007.6:c.1403A>G	ENSP00000404119.2:p.Asn468Ser
ENST00000677295.2:c.*1690A>G	ENSP00000504346.2:n.*1690A>G
ENST00000678264.2:c.*1529A>G	ENSP00000503157.2:n.*1529A>G
ENST00000682070.1:n.1811A>G
ENST00000682535.1:n.118A>G
ENST00000682539.1:c.284A>G
ENST00000682813.1:n.1611A>G
ENST00000683110.1:n.74A>G
ENST00000683392.1:n.4093A>G
ENST00000683712.1:n.1751A>G
ENST00000683900.1:n.3246A>G
ENST00000684062.1:n.2012A>G
ENST00000684579.1:n.3192A>G
ENST00000684679.1:n.573A>G
ENST00000341012.12:c.1184A>G	ENSP00000343034.7:p.Asn395Ser
ENST00000372220.5:c.215A>G	ENSP00000361294.5:p.Asn72Ser
ENST00000372228.9:c.1412A>G	ENSP00000361302.3:p.Asn471Ser
ENST00000402686.8:c.1346A>G MANE Select	ENSP00000385797.4:p.Asn449Ser
ENST00000676640.1:c.1346A>G	ENSP00000503281.1:p.Asn449Ser
ENST00000676803.1:c.521A>G	ENSP00000503093.1:p.Asn174Ser
ENST00000676835.1:c.*561A>G	ENSP00000502911.1:n.*561A>G
ENST00000677029.1:c.890A>G	ENSP00000502936.1:p.Asn297Ser
ENST00000677099.1:c.*1056A>G	ENSP00000504553.1:n.*1056A>G
ENST00000677216.1:c.995A>G	ENSP00000503772.1:p.Asn332Ser
ENST00000677221.1:n.371A>G
ENST00000677295.1:c.*723A>G	ENSP00000504346.1:n.*723A>G
ENST00000677444.1:c.1152A>G
ENST00000677586.1:n.827A>G
ENST00000677626.1:c.995A>G	ENSP00000503552.1:p.Asn332Ser
ENST00000677677.1:n.1306A>G
ENST00000677853.1:c.*354A>G	ENSP00000503488.1:n.*354A>G
ENST00000677983.1:n.435A>G
ENST00000678202.1:n.366A>G
ENST00000678264.1:c.*723A>G	ENSP00000503157.1:n.*723A>G
ENST00000678303.1:c.1256A>G	ENSP00000503696.1:p.Asn419Ser
ENST00000678366.1:c.*1595A>G	ENSP00000504353.1:n.*1595A>G
ENST00000678546.1:c.*1291A>G	ENSP00000503062.1:n.*1291A>G
ENST00000678548.1:c.*1418A>G	ENSP00000503934.1:n.*1418A>G
ENST00000678626.1:n.1043A>G
ENST00000678733.1:c.427A>G
ENST00000678739.1:c.*1672A>G	ENSP00000503806.1:n.*1672A>G
ENST00000678795.1:n.433A>G
ENST00000678833.1:c.*793A>G	ENSP00000503893.1:n.*793A>G
ENST00000678942.1:c.526A>G	ENSP00000504690.1:n.526A>G
ENST00000679023.1:c.1184A>G	ENSP00000503718.1:p.Asn395Ser
ENST00000679076.1:c.965A>G
ENST00000679111.1:c.1346A>G	ENSP00000504257.1:p.Asn449Ser
ENST00000679189.1:c.995A>G	ENSP00000503356.1:p.Asn332Ser
ENST00000341012.11:c.1184A>G	ENSP00000343034.7:p.Asn395Ser
ENST00000372220.4:c.209A>G	ENSP00000361294.4:p.Asn70Ser
ENST00000372228.7:c.1412A>G	ENSP00000361302.3:p.Asn471Ser
ENST00000402686.7:c.1346A>G	ENSP00000385797.3:p.Asn449Ser
ENST00000404875.6:c.995A>G	ENSP00000384531.2:p.Asn332Ser
ENST00000423007.5:c.1346A>G	ENSP00000404119.1:p.Asn449Ser
ENST00000485278.5:n.1901A>G
NM_001077365.1:c.1346A>G	NP_001070833.1:p.Asn449Ser
NM_001077366.1:c.1184A>G	NP_001070834.1:p.Asn395Ser
NM_001136113.1:c.1346A>G	NP_001129585.1:p.Asn449Ser
NM_001136114.1:c.995A>G	NP_001129586.1:p.Asn332Ser
NM_007171.3:c.1412A>G	NP_009102.3:p.Asn471Ser
XM_005272156.1:c.1412A>G	XP_005272213.1:p.Asn471Ser
XM_005272158.1:c.1250A>G	XP_005272215.1:p.Asn417Ser
XM_005272159.1:c.1061A>G	XP_005272216.1:p.Asn354Ser
XM_005272162.1:c.215A>G	XP_005272219.1:p.Asn72Ser
XM_006716932.1:c.1061A>G	XP_006716995.1:p.Asn354Ser
XM_011518140.1:c.1265A>G	XP_011516442.1:p.Asn422Ser
XM_011518141.1:c.1199A>G	XP_011516443.1:p.Asn400Ser
XM_011518142.1:c.1103A>G	XP_011516444.1:p.Asn368Ser
XM_011518143.1:c.1097A>G	XP_011516445.1:p.Asn366Ser
XM_011518144.1:c.1412A>G	XP_011516446.1:p.Asn471Ser
XM_011518145.1:c.956A>G	XP_011516447.1:p.Asn319Ser
XM_011518146.1:c.1097A>G	XP_011516448.1:p.Asn366Ser
XM_011518147.1:c.284A>G	XP_011516449.1:p.Asn95Ser
XR_929703.1:n.1588A>G
NM_001353193.1:c.1412A>G	NP_001340122.1:p.Asn471Ser
NM_001353194.1:c.1184A>G	NP_001340123.1:p.Asn395Ser
NM_001353195.1:c.995A>G	NP_001340124.1:p.Asn332Ser
NM_001353196.1:c.1256A>G	NP_001340125.1:p.Asn419Ser
NM_001353197.1:c.1250A>G	NP_001340126.1:p.Asn417Ser
NM_001353198.1:c.1250A>G	NP_001340127.1:p.Asn417Ser
NM_001353199.1:c.1061A>G	NP_001340128.1:p.Asn354Ser
NM_001353200.1:c.890A>G	NP_001340129.1:p.Asn297Ser
NR_148391.1:n.1396A>G
NR_148392.1:n.1614A>G
NR_148393.1:n.1396A>G
NR_148394.1:n.1289A>G
NR_148395.1:n.1548A>G
NR_148396.1:n.1182A>G
NR_148397.1:n.1446A>G
NR_148398.1:n.1401A>G
NR_148399.1:n.1788A>G
NR_148400.1:n.1387A>G
XM_005272162.3:c.215A>G	XP_005272219.1:p.Asn72Ser
XM_006716932.2:c.1061A>G	XP_006716995.1:p.Asn354Ser
XM_011518140.2:c.1265A>G	XP_011516442.1:p.Asn422Ser
XM_011518141.2:c.1199A>G	XP_011516443.1:p.Asn400Ser
XM_011518142.2:c.1103A>G	XP_011516444.1:p.Asn368Ser
XM_011518143.2:c.1097A>G	XP_011516445.1:p.Asn366Ser
XM_011518145.2:c.956A>G	XP_011516447.1:p.Asn319Ser
XM_017014205.2:c.215A>G	XP_016869694.1:p.Asn72Ser
XM_024447380.1:c.215A>G	XP_024303148.1:p.Asn72Ser
XM_024447381.1:c.521A>G	XP_024303149.1:p.Asn174Ser
XM_024447382.1:c.215A>G	XP_024303150.1:p.Asn72Ser
XR_001746160.2:n.1516A>G
XR_001746162.2:n.1582A>G
XR_001746164.1:n.1299A>G
XR_001746166.2:n.1733A>G
NM_001077365.2:c.1346A>G MANE Select	NP_001070833.1:p.Asn449Ser
NM_001077366.2:c.1184A>G	NP_001070834.1:p.Asn395Ser
NM_001136113.2:c.1346A>G	NP_001129585.1:p.Asn449Ser
NM_001136114.2:c.995A>G	NP_001129586.1:p.Asn332Ser
NM_001353193.2:c.1412A>G	NP_001340122.2:p.Asn471Ser
NM_001353194.2:c.1184A>G	NP_001340123.1:p.Asn395Ser
NM_001353195.2:c.995A>G	NP_001340124.1:p.Asn332Ser
NM_001353196.2:c.1256A>G	NP_001340125.1:p.Asn419Ser
NM_001353197.2:c.1250A>G	NP_001340126.2:p.Asn417Ser
NM_001353198.2:c.1250A>G	NP_001340127.2:p.Asn417Ser
NM_001353199.2:c.1061A>G	NP_001340128.2:p.Asn354Ser
NM_001353200.2:c.890A>G	NP_001340129.1:p.Asn297Ser
NM_001374689.1:c.1334A>G	NP_001361618.1:p.Asn445Ser
NM_001374690.1:c.1346A>G	NP_001361619.1:p.Asn449Ser
NM_001374691.1:c.995A>G	NP_001361620.1:p.Asn332Ser
NM_001374692.1:c.995A>G	NP_001361621.1:p.Asn332Ser
NM_001374693.1:c.995A>G	NP_001361622.1:p.Asn332Ser
NM_001374695.1:c.956A>G	NP_001361624.1:p.Asn319Ser
NM_007171.4:c.1412A>G	NP_009102.4:p.Asn471Ser
NR_148391.2:n.1380A>G
NR_148392.2:n.1598A>G
NR_148393.2:n.1380A>G
NR_148394.2:n.1273A>G
NR_148395.2:n.1532A>G
NR_148396.2:n.1166A>G
NR_148397.2:n.1430A>G
NR_148398.2:n.1385A>G
NR_148399.2:n.1772A>G
NR_148400.2:n.1371A>G