Canonical Allele Identifier: CA5293704

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1673435
• ClinVar RCV Id: RCV002213841
• dbSNP Id: rs770742841
• ExAC: 9:134394331 C / T
• gnomAD v2: 9-134394331-C-T
• gnomAD v4: 9-131518944-C-T
• MyVariant Identifiers: chr9:g.134394331C>T (hg19) ; chr9:g.131518944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518944C>T , CM000671.2:g.131518944C>T	GRCh38
NC_000009.11:g.134394331C>T , CM000671.1:g.134394331C>T	GRCh37
NC_000009.10:g.133384152C>T	NCBI36
NG_008896.1:g.21043C>T
NG_008896.2:g.21043C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1311C>T	ENSP00000343034.7:p.His437=
ENST00000404875.7:n.2013C>T
ENST00000423007.6:c.1530C>T	ENSP00000404119.2:p.His510=
ENST00000677295.2:c.*1817C>T	ENSP00000504346.2:n.*1817C>T
ENST00000678264.2:c.*1656C>T	ENSP00000503157.2:n.*1656C>T
ENST00000682070.1:n.1938C>T
ENST00000682539.1:c.411C>T
ENST00000682813.1:n.1877C>T
ENST00000683392.1:n.4220C>T
ENST00000683712.1:n.1878C>T
ENST00000683900.1:n.3373C>T
ENST00000684062.1:n.2139C>T
ENST00000684579.1:n.3319C>T
ENST00000684679.1:n.700C>T
ENST00000341012.12:c.1311C>T	ENSP00000343034.7:p.His437=
ENST00000372220.5:c.342C>T	ENSP00000361294.5:p.His114=
ENST00000372228.9:c.1539C>T	ENSP00000361302.3:p.His513=
ENST00000402686.8:c.1473C>T MANE Select	ENSP00000385797.4:p.His491=
ENST00000676640.1:c.1473C>T	ENSP00000503281.1:p.His491=
ENST00000676803.1:c.648C>T	ENSP00000503093.1:p.His216=
ENST00000676835.1:c.*688C>T	ENSP00000502911.1:n.*688C>T
ENST00000677029.1:c.1017C>T	ENSP00000502936.1:p.His339=
ENST00000677099.1:c.*1183C>T	ENSP00000504553.1:n.*1183C>T
ENST00000677216.1:c.1122C>T	ENSP00000503772.1:p.His374=
ENST00000677221.1:n.498C>T
ENST00000677295.1:c.*850C>T	ENSP00000504346.1:n.*850C>T
ENST00000677444.1:c.1418C>T
ENST00000677586.1:n.954C>T
ENST00000677626.1:c.1122C>T	ENSP00000503552.1:p.His374=
ENST00000677677.1:n.1433C>T
ENST00000677853.1:c.*481C>T	ENSP00000503488.1:n.*481C>T
ENST00000678202.1:n.632C>T
ENST00000678264.1:c.*850C>T	ENSP00000503157.1:n.*850C>T
ENST00000678303.1:c.1383C>T	ENSP00000503696.1:p.His461=
ENST00000678366.1:c.*1722C>T	ENSP00000504353.1:n.*1722C>T
ENST00000678546.1:c.*1418C>T	ENSP00000503062.1:n.*1418C>T
ENST00000678548.1:c.*1545C>T	ENSP00000503934.1:n.*1545C>T
ENST00000678626.1:n.1309C>T
ENST00000678733.1:c.554C>T
ENST00000678739.1:c.*1799C>T	ENSP00000503806.1:n.*1799C>T
ENST00000678833.1:c.*920C>T	ENSP00000503893.1:n.*920C>T
ENST00000679023.1:c.1311C>T	ENSP00000503718.1:p.His437=
ENST00000679076.1:c.1092C>T
ENST00000679111.1:c.*229C>T	ENSP00000504257.1:n.*229C>T
ENST00000679189.1:c.1122C>T	ENSP00000503356.1:p.His374=
ENST00000341012.11:c.1311C>T	ENSP00000343034.7:p.His437=
ENST00000372220.4:c.336C>T	ENSP00000361294.4:p.His112=
ENST00000372228.7:c.1539C>T	ENSP00000361302.3:p.His513=
ENST00000402686.7:c.1473C>T	ENSP00000385797.3:p.His491=
ENST00000404875.6:c.1122C>T	ENSP00000384531.2:p.His374=
ENST00000423007.5:c.1473C>T	ENSP00000404119.1:p.His491=
ENST00000467848.1:n.177C>T
ENST00000485278.5:n.2028C>T
NM_001077365.1:c.1473C>T	NP_001070833.1:p.His491=
NM_001077366.1:c.1311C>T	NP_001070834.1:p.His437=
NM_001136113.1:c.1473C>T	NP_001129585.1:p.His491=
NM_001136114.1:c.1122C>T	NP_001129586.1:p.His374=
NM_007171.3:c.1539C>T	NP_009102.3:p.His513=
XM_005272156.1:c.1539C>T	XP_005272213.1:p.His513=
XM_005272158.1:c.1377C>T	XP_005272215.1:p.His459=
XM_005272159.1:c.1188C>T	XP_005272216.1:p.His396=
XM_005272162.1:c.342C>T	XP_005272219.1:p.His114=
XM_006716932.1:c.1188C>T	XP_006716995.1:p.His396=
XM_011518140.1:c.1392C>T	XP_011516442.1:p.His464=
XM_011518141.1:c.1326C>T	XP_011516443.1:p.His442=
XM_011518142.1:c.1230C>T	XP_011516444.1:p.His410=
XM_011518143.1:c.1224C>T	XP_011516445.1:p.His408=
XM_011518145.1:c.1083C>T	XP_011516447.1:p.His361=
XM_011518147.1:c.411C>T	XP_011516449.1:p.His137=
XR_929703.1:n.1715C>T
NM_001353193.1:c.1539C>T	NP_001340122.1:p.His513=
NM_001353194.1:c.1311C>T	NP_001340123.1:p.His437=
NM_001353195.1:c.1122C>T	NP_001340124.1:p.His374=
NM_001353196.1:c.1383C>T	NP_001340125.1:p.His461=
NM_001353197.1:c.1377C>T	NP_001340126.1:p.His459=
NM_001353198.1:c.1377C>T	NP_001340127.1:p.His459=
NM_001353199.1:c.1188C>T	NP_001340128.1:p.His396=
NM_001353200.1:c.1017C>T	NP_001340129.1:p.His339=
NR_148391.1:n.1523C>T
NR_148392.1:n.1741C>T
NR_148393.1:n.1662C>T
NR_148394.1:n.1416C>T
NR_148395.1:n.1814C>T
NR_148396.1:n.1448C>T
NR_148397.1:n.1573C>T
NR_148398.1:n.1528C>T
NR_148399.1:n.2054C>T
NR_148400.1:n.1653C>T
XM_005272162.3:c.342C>T	XP_005272219.1:p.His114=
XM_006716932.2:c.1188C>T	XP_006716995.1:p.His396=
XM_011518140.2:c.1392C>T	XP_011516442.1:p.His464=
XM_011518141.2:c.1326C>T	XP_011516443.1:p.His442=
XM_011518142.2:c.1230C>T	XP_011516444.1:p.His410=
XM_011518143.2:c.1224C>T	XP_011516445.1:p.His408=
XM_011518145.2:c.1083C>T	XP_011516447.1:p.His361=
XM_017014205.2:c.342C>T	XP_016869694.1:p.His114=
XM_024447380.1:c.342C>T	XP_024303148.1:p.His114=
XM_024447381.1:c.648C>T	XP_024303149.1:p.His216=
XM_024447382.1:c.342C>T	XP_024303150.1:p.His114=
XR_001746160.2:n.1643C>T
XR_001746162.2:n.1848C>T
XR_001746164.1:n.1565C>T
XR_001746166.2:n.1860C>T
NM_001077365.2:c.1473C>T MANE Select	NP_001070833.1:p.His491=
NM_001077366.2:c.1311C>T	NP_001070834.1:p.His437=
NM_001136113.2:c.1473C>T	NP_001129585.1:p.His491=
NM_001136114.2:c.1122C>T	NP_001129586.1:p.His374=
NM_001353193.2:c.1539C>T	NP_001340122.2:p.His513=
NM_001353194.2:c.1311C>T	NP_001340123.1:p.His437=
NM_001353195.2:c.1122C>T	NP_001340124.1:p.His374=
NM_001353196.2:c.1383C>T	NP_001340125.1:p.His461=
NM_001353197.2:c.1377C>T	NP_001340126.2:p.His459=
NM_001353198.2:c.1377C>T	NP_001340127.2:p.His459=
NM_001353199.2:c.1188C>T	NP_001340128.2:p.His396=
NM_001353200.2:c.1017C>T	NP_001340129.1:p.His339=
NM_001374689.1:c.1461C>T	NP_001361618.1:p.His487=
NM_001374690.1:c.1365+407C>T	NP_001361619.1:n.1365+407C>T
NM_001374691.1:c.1122C>T	NP_001361620.1:p.His374=
NM_001374692.1:c.1122C>T	NP_001361621.1:p.His374=
NM_001374693.1:c.1122C>T	NP_001361622.1:p.His374=
NM_001374695.1:c.1083C>T	NP_001361624.1:p.His361=
NM_007171.4:c.1539C>T	NP_009102.4:p.His513=
NR_148391.2:n.1507C>T
NR_148392.2:n.1725C>T
NR_148393.2:n.1646C>T
NR_148394.2:n.1400C>T
NR_148395.2:n.1798C>T
NR_148396.2:n.1432C>T
NR_148397.2:n.1557C>T
NR_148398.2:n.1512C>T
NR_148399.2:n.2038C>T
NR_148400.2:n.1637C>T