Canonical Allele Identifier: CA467424192

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398403A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523016A>C , CM000671.2:g.131523016A>C	GRCh38
NC_000009.11:g.134398403A>C , CM000671.1:g.134398403A>C	GRCh37
NC_000009.10:g.133388224A>C	NCBI36
NG_008896.1:g.25115A>C
NG_008896.2:g.25115A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1926A>C	ENSP00000343034.7:p.Pro642=
ENST00000404875.7:n.2628A>C
ENST00000423007.6:c.2145A>C	ENSP00000404119.2:p.Pro715=
ENST00000677295.2:c.*2432A>C	ENSP00000504346.2:n.*2432A>C
ENST00000678264.2:c.*2271A>C	ENSP00000503157.2:n.*2271A>C
ENST00000682070.1:n.2398A>C
ENST00000682639.1:c.85A>C
ENST00000682813.1:n.2485A>C
ENST00000683231.1:c.85A>C
ENST00000683392.1:n.4680A>C
ENST00000683712.1:n.2493A>C
ENST00000683900.1:n.3988A>C
ENST00000684062.1:n.2754A>C
ENST00000684399.1:c.85A>C
ENST00000684579.1:n.3934A>C
ENST00000341012.12:c.1926A>C	ENSP00000343034.7:p.Pro642=
ENST00000372220.5:c.957A>C	ENSP00000361294.5:p.Pro319=
ENST00000372228.9:c.2154A>C	ENSP00000361302.3:p.Pro718=
ENST00000402686.8:c.2088A>C MANE Select	ENSP00000385797.4:p.Pro696=
ENST00000676640.1:c.2088A>C	ENSP00000503281.1:p.Pro696=
ENST00000676803.1:c.1149A>C	ENSP00000503093.1:p.Pro383=
ENST00000676835.1:c.*1303A>C	ENSP00000502911.1:n.*1303A>C
ENST00000677029.1:c.1632A>C	ENSP00000502936.1:p.Pro544=
ENST00000677099.1:c.*1798A>C	ENSP00000504553.1:n.*1798A>C
ENST00000677216.1:c.1737A>C	ENSP00000503772.1:p.Pro579=
ENST00000677221.1:n.1113A>C
ENST00000677295.1:c.*1310A>C	ENSP00000504346.1:n.*1310A>C
ENST00000677444.1:c.2033A>C
ENST00000677586.1:n.1455A>C
ENST00000677626.1:c.1737A>C	ENSP00000503552.1:p.Pro579=
ENST00000677853.1:c.*1096A>C	ENSP00000503488.1:n.*1096A>C
ENST00000678264.1:c.*1465A>C	ENSP00000503157.1:n.*1465A>C
ENST00000678303.1:c.1998A>C	ENSP00000503696.1:p.Pro666=
ENST00000678366.1:c.*2337A>C	ENSP00000504353.1:n.*2337A>C
ENST00000678546.1:c.*2033A>C	ENSP00000503062.1:n.*2033A>C
ENST00000678548.1:c.*2227A>C	ENSP00000503934.1:n.*2227A>C
ENST00000678626.1:n.1924A>C
ENST00000678739.1:c.*2254A>C	ENSP00000503806.1:n.*2254A>C
ENST00000678833.1:c.*1840A>C	ENSP00000503893.1:n.*1840A>C
ENST00000679023.1:c.1926A>C	ENSP00000503718.1:p.Pro642=
ENST00000679076.1:c.1707A>C
ENST00000679111.1:c.*844A>C	ENSP00000504257.1:n.*844A>C
ENST00000679189.1:c.1737A>C	ENSP00000503356.1:p.Pro579=
ENST00000341012.11:c.1926A>C	ENSP00000343034.7:p.Pro642=
ENST00000372220.4:c.951A>C	ENSP00000361294.4:p.Pro317=
ENST00000372228.7:c.2154A>C	ENSP00000361302.3:p.Pro718=
ENST00000402686.7:c.2088A>C	ENSP00000385797.3:p.Pro696=
ENST00000404875.6:c.1737A>C	ENSP00000384531.2:p.Pro579=
ENST00000423007.5:c.2088A>C	ENSP00000404119.1:p.Pro696=
ENST00000485278.5:n.2638A>C
NM_001077365.1:c.2088A>C	NP_001070833.1:p.Pro696=
NM_001077366.1:c.1926A>C	NP_001070834.1:p.Pro642=
NM_001136113.1:c.2088A>C	NP_001129585.1:p.Pro696=
NM_001136114.1:c.1737A>C	NP_001129586.1:p.Pro579=
NM_007171.3:c.2154A>C	NP_009102.3:p.Pro718=
XM_005272156.1:c.2154A>C	XP_005272213.1:p.Pro718=
XM_005272158.1:c.1992A>C	XP_005272215.1:p.Pro664=
XM_005272159.1:c.1803A>C	XP_005272216.1:p.Pro601=
XM_005272162.1:c.957A>C	XP_005272219.1:p.Pro319=
XM_006716932.1:c.1803A>C	XP_006716995.1:p.Pro601=
XM_011518140.1:c.2007A>C	XP_011516442.1:p.Pro669=
XM_011518141.1:c.1941A>C	XP_011516443.1:p.Pro647=
XM_011518142.1:c.1845A>C	XP_011516444.1:p.Pro615=
XM_011518143.1:c.1839A>C	XP_011516445.1:p.Pro613=
XM_011518145.1:c.1698A>C	XP_011516447.1:p.Pro566=
XM_011518147.1:c.1026A>C	XP_011516449.1:p.Pro342=
XR_929703.1:n.2330A>C
NM_001353193.1:c.2154A>C	NP_001340122.1:p.Pro718=
NM_001353194.1:c.1926A>C	NP_001340123.1:p.Pro642=
NM_001353195.1:c.1737A>C	NP_001340124.1:p.Pro579=
NM_001353196.1:c.1998A>C	NP_001340125.1:p.Pro666=
NM_001353197.1:c.1992A>C	NP_001340126.1:p.Pro664=
NM_001353198.1:c.1992A>C	NP_001340127.1:p.Pro664=
NM_001353199.1:c.1803A>C	NP_001340128.1:p.Pro601=
NM_001353200.1:c.1632A>C	NP_001340129.1:p.Pro544=
NR_148391.1:n.2138A>C
NR_148392.1:n.2356A>C
NR_148393.1:n.2277A>C
NR_148394.1:n.2031A>C
NR_148395.1:n.2429A>C
NR_148396.1:n.2063A>C
NR_148397.1:n.2188A>C
NR_148398.1:n.2143A>C
NR_148399.1:n.2669A>C
NR_148400.1:n.2268A>C
XM_005272162.3:c.957A>C	XP_005272219.1:p.Pro319=
XM_006716932.2:c.1803A>C	XP_006716995.1:p.Pro601=
XM_011518140.2:c.2007A>C	XP_011516442.1:p.Pro669=
XM_011518141.2:c.1941A>C	XP_011516443.1:p.Pro647=
XM_011518142.2:c.1845A>C	XP_011516444.1:p.Pro615=
XM_011518143.2:c.1839A>C	XP_011516445.1:p.Pro613=
XM_011518145.2:c.1698A>C	XP_011516447.1:p.Pro566=
XM_017014205.2:c.957A>C	XP_016869694.1:p.Pro319=
XM_024447380.1:c.957A>C	XP_024303148.1:p.Pro319=
XM_024447381.1:c.1263A>C	XP_024303149.1:p.Pro421=
XM_024447382.1:c.957A>C	XP_024303150.1:p.Pro319=
XR_001746160.2:n.2258A>C
XR_001746162.2:n.2463A>C
XR_001746164.1:n.2180A>C
XR_001746166.2:n.2475A>C
NM_001077365.2:c.2088A>C MANE Select	NP_001070833.1:p.Pro696=
NM_001077366.2:c.1926A>C	NP_001070834.1:p.Pro642=
NM_001136113.2:c.2088A>C	NP_001129585.1:p.Pro696=
NM_001136114.2:c.1737A>C	NP_001129586.1:p.Pro579=
NM_001353193.2:c.2154A>C	NP_001340122.2:p.Pro718=
NM_001353194.2:c.1926A>C	NP_001340123.1:p.Pro642=
NM_001353195.2:c.1737A>C	NP_001340124.1:p.Pro579=
NM_001353196.2:c.1998A>C	NP_001340125.1:p.Pro666=
NM_001353197.2:c.1992A>C	NP_001340126.2:p.Pro664=
NM_001353198.2:c.1992A>C	NP_001340127.2:p.Pro664=
NM_001353199.2:c.1803A>C	NP_001340128.2:p.Pro601=
NM_001353200.2:c.1632A>C	NP_001340129.1:p.Pro544=
NM_001374689.1:c.2076A>C	NP_001361618.1:p.Pro692=
NM_001374690.1:c.1869A>C	NP_001361619.1:p.Pro623=
NM_001374691.1:c.1737A>C	NP_001361620.1:p.Pro579=
NM_001374692.1:c.1737A>C	NP_001361621.1:p.Pro579=
NM_001374693.1:c.1737A>C	NP_001361622.1:p.Pro579=
NM_001374695.1:c.1698A>C	NP_001361624.1:p.Pro566=
NM_007171.4:c.2154A>C	NP_009102.4:p.Pro718=
NR_148391.2:n.2122A>C
NR_148392.2:n.2340A>C
NR_148393.2:n.2261A>C
NR_148394.2:n.2015A>C
NR_148395.2:n.2413A>C
NR_148396.2:n.2047A>C
NR_148397.2:n.2172A>C
NR_148398.2:n.2127A>C
NR_148399.2:n.2653A>C
NR_148400.2:n.2252A>C