Canonical Allele Identifier: CA1881760629

Gene: POMT1

Linked Data

• dbSNP Id: rs1950299253

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523109C>G , CM000671.2:g.131523109C>G	GRCh38
NC_000009.11:g.134398496C>G , CM000671.1:g.134398496C>G	GRCh37
NC_000009.10:g.133388317C>G	NCBI36
NG_008896.1:g.25208C>G
NG_008896.2:g.25208C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*3C>G	ENSP00000343034.7:n.*3C>G
ENST00000404875.7:n.2721C>G
ENST00000677295.2:c.*2525C>G	ENSP00000504346.2:n.*2525C>G
ENST00000678264.2:c.*2364C>G	ENSP00000503157.2:n.*2364C>G
ENST00000682070.1:n.2491C>G
ENST00000682639.1:c.178C>G
ENST00000682813.1:n.2578C>G
ENST00000683231.1:c.178C>G
ENST00000683392.1:n.4773C>G
ENST00000683900.1:n.4081C>G
ENST00000684062.1:n.2847C>G
ENST00000684399.1:c.178C>G
ENST00000684579.1:n.4027C>G
ENST00000341012.12:c.*3C>G	ENSP00000343034.7:n.*3C>G
ENST00000372220.5:c.*3C>G	ENSP00000361294.5:n.*3C>G
ENST00000372228.9:c.*3C>G	ENSP00000361302.3:n.*3C>G
ENST00000402686.8:c.*3C>G MANE Select	ENSP00000385797.4:n.*3C>G
ENST00000676640.1:c.*3C>G	ENSP00000503281.1:n.*3C>G
ENST00000676803.1:c.*3C>G	ENSP00000503093.1:n.*3C>G
ENST00000676835.1:c.*1396C>G	ENSP00000502911.1:n.*1396C>G
ENST00000677029.1:c.*3C>G	ENSP00000502936.1:n.*3C>G
ENST00000677099.1:c.*1891C>G	ENSP00000504553.1:n.*1891C>G
ENST00000677216.1:c.*3C>G	ENSP00000503772.1:n.*3C>G
ENST00000677295.1:c.*1403C>G	ENSP00000504346.1:n.*1403C>G
ENST00000677444.1:c.2126C>G
ENST00000677586.1:n.1548C>G
ENST00000677626.1:c.*3C>G	ENSP00000503552.1:n.*3C>G
ENST00000677853.1:c.*1189C>G	ENSP00000503488.1:n.*1189C>G
ENST00000678303.1:c.*3C>G	ENSP00000503696.1:n.*3C>G
ENST00000678366.1:c.*2430C>G	ENSP00000504353.1:n.*2430C>G
ENST00000678546.1:c.*2126C>G	ENSP00000503062.1:n.*2126C>G
ENST00000678548.1:c.*2320C>G	ENSP00000503934.1:n.*2320C>G
ENST00000678626.1:n.2017C>G
ENST00000678739.1:c.*2347C>G	ENSP00000503806.1:n.*2347C>G
ENST00000678833.1:c.*1933C>G	ENSP00000503893.1:n.*1933C>G
ENST00000679023.1:c.*3C>G	ENSP00000503718.1:n.*3C>G
ENST00000679076.1:c.1800C>G
ENST00000679111.1:c.*937C>G	ENSP00000504257.1:n.*937C>G
ENST00000679189.1:c.*3C>G	ENSP00000503356.1:n.*3C>G
ENST00000341012.11:c.*3C>G	ENSP00000343034.7:n.*3C>G
ENST00000372220.4:c.1044C>G	ENSP00000361294.4:n.1044C>G
ENST00000372228.7:c.*3C>G	ENSP00000361302.3:n.*3C>G
ENST00000402686.7:c.*3C>G	ENSP00000385797.3:n.*3C>G
ENST00000404875.6:c.*3C>G	ENSP00000384531.2:n.*3C>G
ENST00000423007.5:c.*3C>G	ENSP00000404119.1:n.*3C>G
ENST00000485278.5:n.2731C>G
NM_001077365.1:c.*3C>G	NP_001070833.1:n.*3C>G
NM_001077366.1:c.*3C>G	NP_001070834.1:n.*3C>G
NM_001136113.1:c.*3C>G	NP_001129585.1:n.*3C>G
NM_001136114.1:c.*3C>G	NP_001129586.1:n.*3C>G
NM_007171.3:c.*3C>G	NP_009102.3:n.*3C>G
XM_005272156.1:c.*3C>G	XP_005272213.1:n.*3C>G
XM_005272158.1:c.*3C>G	XP_005272215.1:n.*3C>G
XM_005272159.1:c.*3C>G	XP_005272216.1:n.*3C>G
XM_005272162.1:c.*3C>G	XP_005272219.1:n.*3C>G
XM_006716932.1:c.*3C>G	XP_006716995.1:n.*3C>G
XM_011518140.1:c.*3C>G	XP_011516442.1:n.*3C>G
XM_011518141.1:c.*3C>G	XP_011516443.1:n.*3C>G
XM_011518142.1:c.*3C>G	XP_011516444.1:n.*3C>G
XM_011518143.1:c.*3C>G	XP_011516445.1:n.*3C>G
XM_011518145.1:c.*3C>G	XP_011516447.1:n.*3C>G
XM_011518147.1:c.*3C>G	XP_011516449.1:n.*3C>G
XR_929703.1:n.2423C>G
NM_001353193.1:c.*3C>G	NP_001340122.1:n.*3C>G
NM_001353194.1:c.*3C>G	NP_001340123.1:n.*3C>G
NM_001353195.1:c.*3C>G	NP_001340124.1:n.*3C>G
NM_001353196.1:c.*3C>G	NP_001340125.1:n.*3C>G
NM_001353197.1:c.*3C>G	NP_001340126.1:n.*3C>G
NM_001353198.1:c.*3C>G	NP_001340127.1:n.*3C>G
NM_001353199.1:c.*3C>G	NP_001340128.1:n.*3C>G
NM_001353200.1:c.*3C>G	NP_001340129.1:n.*3C>G
NR_148391.1:n.2231C>G
NR_148392.1:n.2449C>G
NR_148393.1:n.2370C>G
NR_148394.1:n.2124C>G
NR_148395.1:n.2522C>G
NR_148396.1:n.2156C>G
NR_148397.1:n.2281C>G
NR_148398.1:n.2236C>G
NR_148399.1:n.2762C>G
NR_148400.1:n.2361C>G
XM_005272162.3:c.*3C>G	XP_005272219.1:n.*3C>G
XM_006716932.2:c.*3C>G	XP_006716995.1:n.*3C>G
XM_011518140.2:c.*3C>G	XP_011516442.1:n.*3C>G
XM_011518141.2:c.*3C>G	XP_011516443.1:n.*3C>G
XM_011518142.2:c.*3C>G	XP_011516444.1:n.*3C>G
XM_011518143.2:c.*3C>G	XP_011516445.1:n.*3C>G
XM_011518145.2:c.*3C>G	XP_011516447.1:n.*3C>G
XM_017014205.2:c.*3C>G	XP_016869694.1:n.*3C>G
XM_024447380.1:c.*3C>G	XP_024303148.1:n.*3C>G
XM_024447381.1:c.*3C>G	XP_024303149.1:n.*3C>G
XM_024447382.1:c.*3C>G	XP_024303150.1:n.*3C>G
XR_001746160.2:n.2351C>G
XR_001746162.2:n.2556C>G
XR_001746164.1:n.2273C>G
XR_001746166.2:n.2568C>G
NM_001077365.2:c.*3C>G MANE Select	NP_001070833.1:n.*3C>G
NM_001077366.2:c.*3C>G	NP_001070834.1:n.*3C>G
NM_001136113.2:c.*3C>G	NP_001129585.1:n.*3C>G
NM_001136114.2:c.*3C>G	NP_001129586.1:n.*3C>G
NM_001353193.2:c.*3C>G	NP_001340122.2:n.*3C>G
NM_001353194.2:c.*3C>G	NP_001340123.1:n.*3C>G
NM_001353195.2:c.*3C>G	NP_001340124.1:n.*3C>G
NM_001353196.2:c.*3C>G	NP_001340125.1:n.*3C>G
NM_001353197.2:c.*3C>G	NP_001340126.2:n.*3C>G
NM_001353198.2:c.*3C>G	NP_001340127.2:n.*3C>G
NM_001353199.2:c.*3C>G	NP_001340128.2:n.*3C>G
NM_001353200.2:c.*3C>G	NP_001340129.1:n.*3C>G
NM_001374689.1:c.*3C>G	NP_001361618.1:n.*3C>G
NM_001374690.1:c.*3C>G	NP_001361619.1:n.*3C>G
NM_001374691.1:c.*3C>G	NP_001361620.1:n.*3C>G
NM_001374692.1:c.*3C>G	NP_001361621.1:n.*3C>G
NM_001374693.1:c.*3C>G	NP_001361622.1:n.*3C>G
NM_001374695.1:c.*3C>G	NP_001361624.1:n.*3C>G
NM_007171.4:c.*3C>G	NP_009102.4:n.*3C>G
NR_148391.2:n.2215C>G
NR_148392.2:n.2433C>G
NR_148393.2:n.2354C>G
NR_148394.2:n.2108C>G
NR_148395.2:n.2506C>G
NR_148396.2:n.2140C>G
NR_148397.2:n.2265C>G
NR_148398.2:n.2220C>G
NR_148399.2:n.2746C>G
NR_148400.2:n.2345C>G