Canonical Allele Identifier: CA375311874

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394264T>C (hg19) ; chr9:g.131518877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518877T>C , CM000671.2:g.131518877T>C	GRCh38
NC_000009.11:g.134394264T>C , CM000671.1:g.134394264T>C	GRCh37
NC_000009.10:g.133384085T>C	NCBI36
NG_008896.1:g.20976T>C
NG_008896.2:g.20976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1244T>C	ENSP00000343034.7:p.Leu415Pro
ENST00000404875.7:n.1946T>C
ENST00000423007.6:c.1463T>C	ENSP00000404119.2:p.Leu488Pro
ENST00000677295.2:c.*1750T>C	ENSP00000504346.2:n.*1750T>C
ENST00000678264.2:c.*1589T>C	ENSP00000503157.2:n.*1589T>C
ENST00000682070.1:n.1871T>C
ENST00000682539.1:c.344T>C
ENST00000682813.1:n.1810T>C
ENST00000683392.1:n.4153T>C
ENST00000683712.1:n.1811T>C
ENST00000683900.1:n.3306T>C
ENST00000684062.1:n.2072T>C
ENST00000684579.1:n.3252T>C
ENST00000684679.1:n.633T>C
ENST00000341012.12:c.1244T>C	ENSP00000343034.7:p.Leu415Pro
ENST00000372220.5:c.275T>C	ENSP00000361294.5:p.Leu92Pro
ENST00000372228.9:c.1472T>C	ENSP00000361302.3:p.Leu491Pro
ENST00000402686.8:c.1406T>C MANE Select	ENSP00000385797.4:p.Leu469Pro
ENST00000676640.1:c.1406T>C	ENSP00000503281.1:p.Leu469Pro
ENST00000676803.1:c.581T>C	ENSP00000503093.1:p.Leu194Pro
ENST00000676835.1:c.*621T>C	ENSP00000502911.1:n.*621T>C
ENST00000677029.1:c.950T>C	ENSP00000502936.1:p.Leu317Pro
ENST00000677099.1:c.*1116T>C	ENSP00000504553.1:n.*1116T>C
ENST00000677216.1:c.1055T>C	ENSP00000503772.1:p.Leu352Pro
ENST00000677221.1:n.431T>C
ENST00000677295.1:c.*783T>C	ENSP00000504346.1:n.*783T>C
ENST00000677444.1:c.1351T>C
ENST00000677586.1:n.887T>C
ENST00000677626.1:c.1055T>C	ENSP00000503552.1:p.Leu352Pro
ENST00000677677.1:n.1366T>C
ENST00000677853.1:c.*414T>C	ENSP00000503488.1:n.*414T>C
ENST00000678202.1:n.565T>C
ENST00000678264.1:c.*783T>C	ENSP00000503157.1:n.*783T>C
ENST00000678303.1:c.1316T>C	ENSP00000503696.1:p.Leu439Pro
ENST00000678366.1:c.*1655T>C	ENSP00000504353.1:n.*1655T>C
ENST00000678546.1:c.*1351T>C	ENSP00000503062.1:n.*1351T>C
ENST00000678548.1:c.*1478T>C	ENSP00000503934.1:n.*1478T>C
ENST00000678626.1:n.1242T>C
ENST00000678733.1:c.487T>C
ENST00000678739.1:c.*1732T>C	ENSP00000503806.1:n.*1732T>C
ENST00000678833.1:c.*853T>C	ENSP00000503893.1:n.*853T>C
ENST00000679023.1:c.1244T>C	ENSP00000503718.1:p.Leu415Pro
ENST00000679076.1:c.1025T>C
ENST00000679111.1:c.*162T>C	ENSP00000504257.1:n.*162T>C
ENST00000679189.1:c.1055T>C	ENSP00000503356.1:p.Leu352Pro
ENST00000341012.11:c.1244T>C	ENSP00000343034.7:p.Leu415Pro
ENST00000372220.4:c.269T>C	ENSP00000361294.4:p.Leu90Pro
ENST00000372228.7:c.1472T>C	ENSP00000361302.3:p.Leu491Pro
ENST00000402686.7:c.1406T>C	ENSP00000385797.3:p.Leu469Pro
ENST00000404875.6:c.1055T>C	ENSP00000384531.2:p.Leu352Pro
ENST00000423007.5:c.1406T>C	ENSP00000404119.1:p.Leu469Pro
ENST00000467848.1:n.110T>C
ENST00000485278.5:n.1961T>C
NM_001077365.1:c.1406T>C	NP_001070833.1:p.Leu469Pro
NM_001077366.1:c.1244T>C	NP_001070834.1:p.Leu415Pro
NM_001136113.1:c.1406T>C	NP_001129585.1:p.Leu469Pro
NM_001136114.1:c.1055T>C	NP_001129586.1:p.Leu352Pro
NM_007171.3:c.1472T>C	NP_009102.3:p.Leu491Pro
XM_005272156.1:c.1472T>C	XP_005272213.1:p.Leu491Pro
XM_005272158.1:c.1310T>C	XP_005272215.1:p.Leu437Pro
XM_005272159.1:c.1121T>C	XP_005272216.1:p.Leu374Pro
XM_005272162.1:c.275T>C	XP_005272219.1:p.Leu92Pro
XM_006716932.1:c.1121T>C	XP_006716995.1:p.Leu374Pro
XM_011518140.1:c.1325T>C	XP_011516442.1:p.Leu442Pro
XM_011518141.1:c.1259T>C	XP_011516443.1:p.Leu420Pro
XM_011518142.1:c.1163T>C	XP_011516444.1:p.Leu388Pro
XM_011518143.1:c.1157T>C	XP_011516445.1:p.Leu386Pro
XM_011518144.1:c.*162T>C	XP_011516446.1:n.*162T>C
XM_011518145.1:c.1016T>C	XP_011516447.1:p.Leu339Pro
XM_011518146.1:c.*162T>C	XP_011516448.1:n.*162T>C
XM_011518147.1:c.344T>C	XP_011516449.1:p.Leu115Pro
XR_929703.1:n.1648T>C
NM_001353193.1:c.1472T>C	NP_001340122.1:p.Leu491Pro
NM_001353194.1:c.1244T>C	NP_001340123.1:p.Leu415Pro
NM_001353195.1:c.1055T>C	NP_001340124.1:p.Leu352Pro
NM_001353196.1:c.1316T>C	NP_001340125.1:p.Leu439Pro
NM_001353197.1:c.1310T>C	NP_001340126.1:p.Leu437Pro
NM_001353198.1:c.1310T>C	NP_001340127.1:p.Leu437Pro
NM_001353199.1:c.1121T>C	NP_001340128.1:p.Leu374Pro
NM_001353200.1:c.950T>C	NP_001340129.1:p.Leu317Pro
NR_148391.1:n.1456T>C
NR_148392.1:n.1674T>C
NR_148393.1:n.1595T>C
NR_148394.1:n.1349T>C
NR_148395.1:n.1747T>C
NR_148396.1:n.1381T>C
NR_148397.1:n.1506T>C
NR_148398.1:n.1461T>C
NR_148399.1:n.1987T>C
NR_148400.1:n.1586T>C
XM_005272162.3:c.275T>C	XP_005272219.1:p.Leu92Pro
XM_006716932.2:c.1121T>C	XP_006716995.1:p.Leu374Pro
XM_011518140.2:c.1325T>C	XP_011516442.1:p.Leu442Pro
XM_011518141.2:c.1259T>C	XP_011516443.1:p.Leu420Pro
XM_011518142.2:c.1163T>C	XP_011516444.1:p.Leu388Pro
XM_011518143.2:c.1157T>C	XP_011516445.1:p.Leu386Pro
XM_011518145.2:c.1016T>C	XP_011516447.1:p.Leu339Pro
XM_017014205.2:c.275T>C	XP_016869694.1:p.Leu92Pro
XM_024447380.1:c.275T>C	XP_024303148.1:p.Leu92Pro
XM_024447381.1:c.581T>C	XP_024303149.1:p.Leu194Pro
XM_024447382.1:c.275T>C	XP_024303150.1:p.Leu92Pro
XR_001746160.2:n.1576T>C
XR_001746162.2:n.1781T>C
XR_001746164.1:n.1498T>C
XR_001746166.2:n.1793T>C
NM_001077365.2:c.1406T>C MANE Select	NP_001070833.1:p.Leu469Pro
NM_001077366.2:c.1244T>C	NP_001070834.1:p.Leu415Pro
NM_001136113.2:c.1406T>C	NP_001129585.1:p.Leu469Pro
NM_001136114.2:c.1055T>C	NP_001129586.1:p.Leu352Pro
NM_001353193.2:c.1472T>C	NP_001340122.2:p.Leu491Pro
NM_001353194.2:c.1244T>C	NP_001340123.1:p.Leu415Pro
NM_001353195.2:c.1055T>C	NP_001340124.1:p.Leu352Pro
NM_001353196.2:c.1316T>C	NP_001340125.1:p.Leu439Pro
NM_001353197.2:c.1310T>C	NP_001340126.2:p.Leu437Pro
NM_001353198.2:c.1310T>C	NP_001340127.2:p.Leu437Pro
NM_001353199.2:c.1121T>C	NP_001340128.2:p.Leu374Pro
NM_001353200.2:c.950T>C	NP_001340129.1:p.Leu317Pro
NM_001374689.1:c.1394T>C	NP_001361618.1:p.Leu465Pro
NM_001374690.1:c.1365+340T>C	NP_001361619.1:n.1365+340T>C
NM_001374691.1:c.1055T>C	NP_001361620.1:p.Leu352Pro
NM_001374692.1:c.1055T>C	NP_001361621.1:p.Leu352Pro
NM_001374693.1:c.1055T>C	NP_001361622.1:p.Leu352Pro
NM_001374695.1:c.1016T>C	NP_001361624.1:p.Leu339Pro
NM_007171.4:c.1472T>C	NP_009102.4:p.Leu491Pro
NR_148391.2:n.1440T>C
NR_148392.2:n.1658T>C
NR_148393.2:n.1579T>C
NR_148394.2:n.1333T>C
NR_148395.2:n.1731T>C
NR_148396.2:n.1365T>C
NR_148397.2:n.1490T>C
NR_148398.2:n.1445T>C
NR_148399.2:n.1971T>C
NR_148400.2:n.1570T>C