Canonical Allele Identifier: CA1881760595

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523096G= , CM000671.2:g.131523096G=	GRCh38
NC_000009.11:g.134398483G= , CM000671.1:g.134398483G=	GRCh37
NC_000009.10:g.133388304G=	NCBI36
NG_008896.1:g.25195G=
NG_008896.2:g.25195G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2006G=	ENSP00000343034.7:p.Arg669=
ENST00000404875.7:n.2708G=
ENST00000423007.6:c.2225G=	ENSP00000404119.2:p.Arg742=
ENST00000677295.2:c.*2512G=	ENSP00000504346.2:n.*2512G=
ENST00000678264.2:c.*2351G=	ENSP00000503157.2:n.*2351G=
ENST00000682070.1:n.2478G=
ENST00000682639.1:c.165G=
ENST00000682813.1:n.2565G=
ENST00000683231.1:c.165G=
ENST00000683392.1:n.4760G=
ENST00000683712.1:n.2573G=
ENST00000683900.1:n.4068G=
ENST00000684062.1:n.2834G=
ENST00000684399.1:c.165G=
ENST00000684579.1:n.4014G=
ENST00000341012.12:c.2006G=	ENSP00000343034.7:p.Arg669=
ENST00000372220.5:c.1037G=	ENSP00000361294.5:p.Arg346=
ENST00000372228.9:c.2234G=	ENSP00000361302.3:p.Arg745=
ENST00000402686.8:c.2168G= MANE Select	ENSP00000385797.4:p.Arg723=
ENST00000676640.1:c.2168G=	ENSP00000503281.1:p.Arg723=
ENST00000676803.1:c.1229G=	ENSP00000503093.1:p.Arg410=
ENST00000676835.1:c.*1383G=	ENSP00000502911.1:n.*1383G=
ENST00000677029.1:c.1712G=	ENSP00000502936.1:p.Arg571=
ENST00000677099.1:c.*1878G=	ENSP00000504553.1:n.*1878G=
ENST00000677216.1:c.1817G=	ENSP00000503772.1:p.Arg606=
ENST00000677295.1:c.*1390G=	ENSP00000504346.1:n.*1390G=
ENST00000677444.1:c.2113G=
ENST00000677586.1:n.1535G=
ENST00000677626.1:c.1817G=	ENSP00000503552.1:p.Arg606=
ENST00000677853.1:c.*1176G=	ENSP00000503488.1:n.*1176G=
ENST00000678264.1:c.*1545G=	ENSP00000503157.1:n.*1545G=
ENST00000678303.1:c.2078G=	ENSP00000503696.1:p.Arg693=
ENST00000678366.1:c.*2417G=	ENSP00000504353.1:n.*2417G=
ENST00000678546.1:c.*2113G=	ENSP00000503062.1:n.*2113G=
ENST00000678548.1:c.*2307G=	ENSP00000503934.1:n.*2307G=
ENST00000678626.1:n.2004G=
ENST00000678739.1:c.*2334G=	ENSP00000503806.1:n.*2334G=
ENST00000678833.1:c.*1920G=	ENSP00000503893.1:n.*1920G=
ENST00000679023.1:c.2006G=	ENSP00000503718.1:p.Arg669=
ENST00000679076.1:c.1787G=
ENST00000679111.1:c.*924G=	ENSP00000504257.1:n.*924G=
ENST00000679189.1:c.1817G=	ENSP00000503356.1:p.Arg606=
ENST00000341012.11:c.2006G=	ENSP00000343034.7:p.Arg669=
ENST00000372220.4:c.1031G=	ENSP00000361294.4:p.Arg344=
ENST00000372228.7:c.2234G=	ENSP00000361302.3:p.Arg745=
ENST00000402686.7:c.2168G=	ENSP00000385797.3:p.Arg723=
ENST00000404875.6:c.1817G=	ENSP00000384531.2:p.Arg606=
ENST00000423007.5:c.2168G=	ENSP00000404119.1:p.Arg723=
ENST00000485278.5:n.2718G=
NM_001077365.1:c.2168G=	NP_001070833.1:p.Arg723=
NM_001077366.1:c.2006G=	NP_001070834.1:p.Arg669=
NM_001136113.1:c.2168G=	NP_001129585.1:p.Arg723=
NM_001136114.1:c.1817G=	NP_001129586.1:p.Arg606=
NM_007171.3:c.2234G=	NP_009102.3:p.Arg745=
XM_005272156.1:c.2234G=	XP_005272213.1:p.Arg745=
XM_005272158.1:c.2072G=	XP_005272215.1:p.Arg691=
XM_005272159.1:c.1883G=	XP_005272216.1:p.Arg628=
XM_005272162.1:c.1037G=	XP_005272219.1:p.Arg346=
XM_006716932.1:c.1883G=	XP_006716995.1:p.Arg628=
XM_011518140.1:c.2087G=	XP_011516442.1:p.Arg696=
XM_011518141.1:c.2021G=	XP_011516443.1:p.Arg674=
XM_011518142.1:c.1925G=	XP_011516444.1:p.Arg642=
XM_011518143.1:c.1919G=	XP_011516445.1:p.Arg640=
XM_011518145.1:c.1778G=	XP_011516447.1:p.Arg593=
XM_011518147.1:c.1106G=	XP_011516449.1:p.Arg369=
XR_929703.1:n.2410G=
NM_001353193.1:c.2234G=	NP_001340122.1:p.Arg745=
NM_001353194.1:c.2006G=	NP_001340123.1:p.Arg669=
NM_001353195.1:c.1817G=	NP_001340124.1:p.Arg606=
NM_001353196.1:c.2078G=	NP_001340125.1:p.Arg693=
NM_001353197.1:c.2072G=	NP_001340126.1:p.Arg691=
NM_001353198.1:c.2072G=	NP_001340127.1:p.Arg691=
NM_001353199.1:c.1883G=	NP_001340128.1:p.Arg628=
NM_001353200.1:c.1712G=	NP_001340129.1:p.Arg571=
NR_148391.1:n.2218G=
NR_148392.1:n.2436G=
NR_148393.1:n.2357G=
NR_148394.1:n.2111G=
NR_148395.1:n.2509G=
NR_148396.1:n.2143G=
NR_148397.1:n.2268G=
NR_148398.1:n.2223G=
NR_148399.1:n.2749G=
NR_148400.1:n.2348G=
XM_005272162.3:c.1037G=	XP_005272219.1:p.Arg346=
XM_006716932.2:c.1883G=	XP_006716995.1:p.Arg628=
XM_011518140.2:c.2087G=	XP_011516442.1:p.Arg696=
XM_011518141.2:c.2021G=	XP_011516443.1:p.Arg674=
XM_011518142.2:c.1925G=	XP_011516444.1:p.Arg642=
XM_011518143.2:c.1919G=	XP_011516445.1:p.Arg640=
XM_011518145.2:c.1778G=	XP_011516447.1:p.Arg593=
XM_017014205.2:c.1037G=	XP_016869694.1:p.Arg346=
XM_024447380.1:c.1037G=	XP_024303148.1:p.Arg346=
XM_024447381.1:c.1343G=	XP_024303149.1:p.Arg448=
XM_024447382.1:c.1037G=	XP_024303150.1:p.Arg346=
XR_001746160.2:n.2338G=
XR_001746162.2:n.2543G=
XR_001746164.1:n.2260G=
XR_001746166.2:n.2555G=
NM_001077365.2:c.2168G= MANE Select	NP_001070833.1:p.Arg723=
NM_001077366.2:c.2006G=	NP_001070834.1:p.Arg669=
NM_001136113.2:c.2168G=	NP_001129585.1:p.Arg723=
NM_001136114.2:c.1817G=	NP_001129586.1:p.Arg606=
NM_001353193.2:c.2234G=	NP_001340122.2:p.Arg745=
NM_001353194.2:c.2006G=	NP_001340123.1:p.Arg669=
NM_001353195.2:c.1817G=	NP_001340124.1:p.Arg606=
NM_001353196.2:c.2078G=	NP_001340125.1:p.Arg693=
NM_001353197.2:c.2072G=	NP_001340126.2:p.Arg691=
NM_001353198.2:c.2072G=	NP_001340127.2:p.Arg691=
NM_001353199.2:c.1883G=	NP_001340128.2:p.Arg628=
NM_001353200.2:c.1712G=	NP_001340129.1:p.Arg571=
NM_001374689.1:c.2156G=	NP_001361618.1:p.Arg719=
NM_001374690.1:c.1949G=	NP_001361619.1:p.Arg650=
NM_001374691.1:c.1817G=	NP_001361620.1:p.Arg606=
NM_001374692.1:c.1817G=	NP_001361621.1:p.Arg606=
NM_001374693.1:c.1817G=	NP_001361622.1:p.Arg606=
NM_001374695.1:c.1778G=	NP_001361624.1:p.Arg593=
NM_007171.4:c.2234G=	NP_009102.4:p.Arg745=
NR_148391.2:n.2202G=
NR_148392.2:n.2420G=
NR_148393.2:n.2341G=
NR_148394.2:n.2095G=
NR_148395.2:n.2493G=
NR_148396.2:n.2127G=
NR_148397.2:n.2252G=
NR_148398.2:n.2207G=
NR_148399.2:n.2733G=
NR_148400.2:n.2332G=