Canonical Allele Identifier: CA467424179

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398385G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522998G>C , CM000671.2:g.131522998G>C	GRCh38
NC_000009.11:g.134398385G>C , CM000671.1:g.134398385G>C	GRCh37
NC_000009.10:g.133388206G>C	NCBI36
NG_008896.1:g.25097G>C
NG_008896.2:g.25097G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1908G>C	ENSP00000343034.7:p.Val636=
ENST00000404875.7:n.2610G>C
ENST00000423007.6:c.2127G>C	ENSP00000404119.2:p.Val709=
ENST00000677295.2:c.*2414G>C	ENSP00000504346.2:n.*2414G>C
ENST00000678264.2:c.*2253G>C	ENSP00000503157.2:n.*2253G>C
ENST00000682070.1:n.2380G>C
ENST00000682639.1:c.67G>C
ENST00000682813.1:n.2467G>C
ENST00000683231.1:c.67G>C
ENST00000683392.1:n.4662G>C
ENST00000683712.1:n.2475G>C
ENST00000683900.1:n.3970G>C
ENST00000684062.1:n.2736G>C
ENST00000684399.1:c.67G>C
ENST00000684579.1:n.3916G>C
ENST00000341012.12:c.1908G>C	ENSP00000343034.7:p.Val636=
ENST00000372220.5:c.939G>C	ENSP00000361294.5:p.Val313=
ENST00000372228.9:c.2136G>C	ENSP00000361302.3:p.Val712=
ENST00000402686.8:c.2070G>C MANE Select	ENSP00000385797.4:p.Val690=
ENST00000676640.1:c.2070G>C	ENSP00000503281.1:p.Val690=
ENST00000676803.1:c.1131G>C	ENSP00000503093.1:p.Val377=
ENST00000676835.1:c.*1285G>C	ENSP00000502911.1:n.*1285G>C
ENST00000677029.1:c.1614G>C	ENSP00000502936.1:p.Val538=
ENST00000677099.1:c.*1780G>C	ENSP00000504553.1:n.*1780G>C
ENST00000677216.1:c.1719G>C	ENSP00000503772.1:p.Val573=
ENST00000677221.1:n.1095G>C
ENST00000677295.1:c.*1292G>C	ENSP00000504346.1:n.*1292G>C
ENST00000677444.1:c.2015G>C
ENST00000677586.1:n.1437G>C
ENST00000677626.1:c.1719G>C	ENSP00000503552.1:p.Val573=
ENST00000677853.1:c.*1078G>C	ENSP00000503488.1:n.*1078G>C
ENST00000678264.1:c.*1447G>C	ENSP00000503157.1:n.*1447G>C
ENST00000678303.1:c.1980G>C	ENSP00000503696.1:p.Val660=
ENST00000678366.1:c.*2319G>C	ENSP00000504353.1:n.*2319G>C
ENST00000678546.1:c.*2015G>C	ENSP00000503062.1:n.*2015G>C
ENST00000678548.1:c.*2209G>C	ENSP00000503934.1:n.*2209G>C
ENST00000678626.1:n.1906G>C
ENST00000678739.1:c.*2236G>C	ENSP00000503806.1:n.*2236G>C
ENST00000678833.1:c.*1822G>C	ENSP00000503893.1:n.*1822G>C
ENST00000679023.1:c.1908G>C	ENSP00000503718.1:p.Val636=
ENST00000679076.1:c.1689G>C
ENST00000679111.1:c.*826G>C	ENSP00000504257.1:n.*826G>C
ENST00000679189.1:c.1719G>C	ENSP00000503356.1:p.Val573=
ENST00000341012.11:c.1908G>C	ENSP00000343034.7:p.Val636=
ENST00000372220.4:c.933G>C	ENSP00000361294.4:p.Val311=
ENST00000372228.7:c.2136G>C	ENSP00000361302.3:p.Val712=
ENST00000402686.7:c.2070G>C	ENSP00000385797.3:p.Val690=
ENST00000404875.6:c.1719G>C	ENSP00000384531.2:p.Val573=
ENST00000423007.5:c.2070G>C	ENSP00000404119.1:p.Val690=
ENST00000485278.5:n.2620G>C
NM_001077365.1:c.2070G>C	NP_001070833.1:p.Val690=
NM_001077366.1:c.1908G>C	NP_001070834.1:p.Val636=
NM_001136113.1:c.2070G>C	NP_001129585.1:p.Val690=
NM_001136114.1:c.1719G>C	NP_001129586.1:p.Val573=
NM_007171.3:c.2136G>C	NP_009102.3:p.Val712=
XM_005272156.1:c.2136G>C	XP_005272213.1:p.Val712=
XM_005272158.1:c.1974G>C	XP_005272215.1:p.Val658=
XM_005272159.1:c.1785G>C	XP_005272216.1:p.Val595=
XM_005272162.1:c.939G>C	XP_005272219.1:p.Val313=
XM_006716932.1:c.1785G>C	XP_006716995.1:p.Val595=
XM_011518140.1:c.1989G>C	XP_011516442.1:p.Val663=
XM_011518141.1:c.1923G>C	XP_011516443.1:p.Val641=
XM_011518142.1:c.1827G>C	XP_011516444.1:p.Val609=
XM_011518143.1:c.1821G>C	XP_011516445.1:p.Val607=
XM_011518145.1:c.1680G>C	XP_011516447.1:p.Val560=
XM_011518147.1:c.1008G>C	XP_011516449.1:p.Val336=
XR_929703.1:n.2312G>C
NM_001353193.1:c.2136G>C	NP_001340122.1:p.Val712=
NM_001353194.1:c.1908G>C	NP_001340123.1:p.Val636=
NM_001353195.1:c.1719G>C	NP_001340124.1:p.Val573=
NM_001353196.1:c.1980G>C	NP_001340125.1:p.Val660=
NM_001353197.1:c.1974G>C	NP_001340126.1:p.Val658=
NM_001353198.1:c.1974G>C	NP_001340127.1:p.Val658=
NM_001353199.1:c.1785G>C	NP_001340128.1:p.Val595=
NM_001353200.1:c.1614G>C	NP_001340129.1:p.Val538=
NR_148391.1:n.2120G>C
NR_148392.1:n.2338G>C
NR_148393.1:n.2259G>C
NR_148394.1:n.2013G>C
NR_148395.1:n.2411G>C
NR_148396.1:n.2045G>C
NR_148397.1:n.2170G>C
NR_148398.1:n.2125G>C
NR_148399.1:n.2651G>C
NR_148400.1:n.2250G>C
XM_005272162.3:c.939G>C	XP_005272219.1:p.Val313=
XM_006716932.2:c.1785G>C	XP_006716995.1:p.Val595=
XM_011518140.2:c.1989G>C	XP_011516442.1:p.Val663=
XM_011518141.2:c.1923G>C	XP_011516443.1:p.Val641=
XM_011518142.2:c.1827G>C	XP_011516444.1:p.Val609=
XM_011518143.2:c.1821G>C	XP_011516445.1:p.Val607=
XM_011518145.2:c.1680G>C	XP_011516447.1:p.Val560=
XM_017014205.2:c.939G>C	XP_016869694.1:p.Val313=
XM_024447380.1:c.939G>C	XP_024303148.1:p.Val313=
XM_024447381.1:c.1245G>C	XP_024303149.1:p.Val415=
XM_024447382.1:c.939G>C	XP_024303150.1:p.Val313=
XR_001746160.2:n.2240G>C
XR_001746162.2:n.2445G>C
XR_001746164.1:n.2162G>C
XR_001746166.2:n.2457G>C
NM_001077365.2:c.2070G>C MANE Select	NP_001070833.1:p.Val690=
NM_001077366.2:c.1908G>C	NP_001070834.1:p.Val636=
NM_001136113.2:c.2070G>C	NP_001129585.1:p.Val690=
NM_001136114.2:c.1719G>C	NP_001129586.1:p.Val573=
NM_001353193.2:c.2136G>C	NP_001340122.2:p.Val712=
NM_001353194.2:c.1908G>C	NP_001340123.1:p.Val636=
NM_001353195.2:c.1719G>C	NP_001340124.1:p.Val573=
NM_001353196.2:c.1980G>C	NP_001340125.1:p.Val660=
NM_001353197.2:c.1974G>C	NP_001340126.2:p.Val658=
NM_001353198.2:c.1974G>C	NP_001340127.2:p.Val658=
NM_001353199.2:c.1785G>C	NP_001340128.2:p.Val595=
NM_001353200.2:c.1614G>C	NP_001340129.1:p.Val538=
NM_001374689.1:c.2058G>C	NP_001361618.1:p.Val686=
NM_001374690.1:c.1851G>C	NP_001361619.1:p.Val617=
NM_001374691.1:c.1719G>C	NP_001361620.1:p.Val573=
NM_001374692.1:c.1719G>C	NP_001361621.1:p.Val573=
NM_001374693.1:c.1719G>C	NP_001361622.1:p.Val573=
NM_001374695.1:c.1680G>C	NP_001361624.1:p.Val560=
NM_007171.4:c.2136G>C	NP_009102.4:p.Val712=
NR_148391.2:n.2104G>C
NR_148392.2:n.2322G>C
NR_148393.2:n.2243G>C
NR_148394.2:n.1997G>C
NR_148395.2:n.2395G>C
NR_148396.2:n.2029G>C
NR_148397.2:n.2154G>C
NR_148398.2:n.2109G>C
NR_148399.2:n.2635G>C
NR_148400.2:n.2234G>C