Canonical Allele Identifier: CA375315274
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523036C>G , CM000671.2:g.131523036C>G GRCh38
NC_000009.11:g.134398423C>G , CM000671.1:g.134398423C>G GRCh37
NC_000009.10:g.133388244C>G NCBI36
NG_008896.1:g.25135C>G
NG_008896.2:g.25135C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1946C>G ENSP00000343034.7:p.Ser649Ter
ENST00000404875.7:n.2648C>G
ENST00000423007.6:c.2165C>G ENSP00000404119.2:p.Ser722Ter
ENST00000677295.2:c.*2452C>G ENSP00000504346.2:n.*2452C>G
ENST00000678264.2:c.*2291C>G ENSP00000503157.2:n.*2291C>G
ENST00000682070.1:n.2418C>G
ENST00000682639.1:c.105C>G
ENST00000682813.1:n.2505C>G
ENST00000683231.1:c.105C>G
ENST00000683392.1:n.4700C>G
ENST00000683712.1:n.2513C>G
ENST00000683900.1:n.4008C>G
ENST00000684062.1:n.2774C>G
ENST00000684399.1:c.105C>G
ENST00000684579.1:n.3954C>G
ENST00000341012.12:c.1946C>G ENSP00000343034.7:p.Ser649Ter
ENST00000372220.5:c.977C>G ENSP00000361294.5:p.Ser326Ter
ENST00000372228.9:c.2174C>G ENSP00000361302.3:p.Ser725Ter
ENST00000402686.8:c.2108C>G MANE Select ENSP00000385797.4:p.Ser703Ter
ENST00000676640.1:c.2108C>G ENSP00000503281.1:p.Ser703Ter
ENST00000676803.1:c.1169C>G ENSP00000503093.1:p.Ser390Ter
ENST00000676835.1:c.*1323C>G ENSP00000502911.1:n.*1323C>G
ENST00000677029.1:c.1652C>G ENSP00000502936.1:p.Ser551Ter
ENST00000677099.1:c.*1818C>G ENSP00000504553.1:n.*1818C>G
ENST00000677216.1:c.1757C>G ENSP00000503772.1:p.Ser586Ter
ENST00000677295.1:c.*1330C>G ENSP00000504346.1:n.*1330C>G
ENST00000677444.1:c.2053C>G
ENST00000677586.1:n.1475C>G
ENST00000677626.1:c.1757C>G ENSP00000503552.1:p.Ser586Ter
ENST00000677853.1:c.*1116C>G ENSP00000503488.1:n.*1116C>G
ENST00000678264.1:c.*1485C>G ENSP00000503157.1:n.*1485C>G
ENST00000678303.1:c.2018C>G ENSP00000503696.1:p.Ser673Ter
ENST00000678366.1:c.*2357C>G ENSP00000504353.1:n.*2357C>G
ENST00000678546.1:c.*2053C>G ENSP00000503062.1:n.*2053C>G
ENST00000678548.1:c.*2247C>G ENSP00000503934.1:n.*2247C>G
ENST00000678626.1:n.1944C>G
ENST00000678739.1:c.*2274C>G ENSP00000503806.1:n.*2274C>G
ENST00000678833.1:c.*1860C>G ENSP00000503893.1:n.*1860C>G
ENST00000679023.1:c.1946C>G ENSP00000503718.1:p.Ser649Ter
ENST00000679076.1:c.1727C>G
ENST00000679111.1:c.*864C>G ENSP00000504257.1:n.*864C>G
ENST00000679189.1:c.1757C>G ENSP00000503356.1:p.Ser586Ter
ENST00000341012.11:c.1946C>G ENSP00000343034.7:p.Ser649Ter
ENST00000372220.4:c.971C>G ENSP00000361294.4:p.Ser324Ter
ENST00000372228.7:c.2174C>G ENSP00000361302.3:p.Ser725Ter
ENST00000402686.7:c.2108C>G ENSP00000385797.3:p.Ser703Ter
ENST00000404875.6:c.1757C>G ENSP00000384531.2:p.Ser586Ter
ENST00000423007.5:c.2108C>G ENSP00000404119.1:p.Ser703Ter
ENST00000485278.5:n.2658C>G
NM_001077365.1:c.2108C>G NP_001070833.1:p.Ser703Ter
NM_001077366.1:c.1946C>G NP_001070834.1:p.Ser649Ter
NM_001136113.1:c.2108C>G NP_001129585.1:p.Ser703Ter
NM_001136114.1:c.1757C>G NP_001129586.1:p.Ser586Ter
NM_007171.3:c.2174C>G NP_009102.3:p.Ser725Ter
XM_005272156.1:c.2174C>G XP_005272213.1:p.Ser725Ter
XM_005272158.1:c.2012C>G XP_005272215.1:p.Ser671Ter
XM_005272159.1:c.1823C>G XP_005272216.1:p.Ser608Ter
XM_005272162.1:c.977C>G XP_005272219.1:p.Ser326Ter
XM_006716932.1:c.1823C>G XP_006716995.1:p.Ser608Ter
XM_011518140.1:c.2027C>G XP_011516442.1:p.Ser676Ter
XM_011518141.1:c.1961C>G XP_011516443.1:p.Ser654Ter
XM_011518142.1:c.1865C>G XP_011516444.1:p.Ser622Ter
XM_011518143.1:c.1859C>G XP_011516445.1:p.Ser620Ter
XM_011518145.1:c.1718C>G XP_011516447.1:p.Ser573Ter
XM_011518147.1:c.1046C>G XP_011516449.1:p.Ser349Ter
XR_929703.1:n.2350C>G
NM_001353193.1:c.2174C>G NP_001340122.1:p.Ser725Ter
NM_001353194.1:c.1946C>G NP_001340123.1:p.Ser649Ter
NM_001353195.1:c.1757C>G NP_001340124.1:p.Ser586Ter
NM_001353196.1:c.2018C>G NP_001340125.1:p.Ser673Ter
NM_001353197.1:c.2012C>G NP_001340126.1:p.Ser671Ter
NM_001353198.1:c.2012C>G NP_001340127.1:p.Ser671Ter
NM_001353199.1:c.1823C>G NP_001340128.1:p.Ser608Ter
NM_001353200.1:c.1652C>G NP_001340129.1:p.Ser551Ter
NR_148391.1:n.2158C>G
NR_148392.1:n.2376C>G
NR_148393.1:n.2297C>G
NR_148394.1:n.2051C>G
NR_148395.1:n.2449C>G
NR_148396.1:n.2083C>G
NR_148397.1:n.2208C>G
NR_148398.1:n.2163C>G
NR_148399.1:n.2689C>G
NR_148400.1:n.2288C>G
XM_005272162.3:c.977C>G XP_005272219.1:p.Ser326Ter
XM_006716932.2:c.1823C>G XP_006716995.1:p.Ser608Ter
XM_011518140.2:c.2027C>G XP_011516442.1:p.Ser676Ter
XM_011518141.2:c.1961C>G XP_011516443.1:p.Ser654Ter
XM_011518142.2:c.1865C>G XP_011516444.1:p.Ser622Ter
XM_011518143.2:c.1859C>G XP_011516445.1:p.Ser620Ter
XM_011518145.2:c.1718C>G XP_011516447.1:p.Ser573Ter
XM_017014205.2:c.977C>G XP_016869694.1:p.Ser326Ter
XM_024447380.1:c.977C>G XP_024303148.1:p.Ser326Ter
XM_024447381.1:c.1283C>G XP_024303149.1:p.Ser428Ter
XM_024447382.1:c.977C>G XP_024303150.1:p.Ser326Ter
XR_001746160.2:n.2278C>G
XR_001746162.2:n.2483C>G
XR_001746164.1:n.2200C>G
XR_001746166.2:n.2495C>G
NM_001077365.2:c.2108C>G MANE Select NP_001070833.1:p.Ser703Ter
NM_001077366.2:c.1946C>G NP_001070834.1:p.Ser649Ter
NM_001136113.2:c.2108C>G NP_001129585.1:p.Ser703Ter
NM_001136114.2:c.1757C>G NP_001129586.1:p.Ser586Ter
NM_001353193.2:c.2174C>G NP_001340122.2:p.Ser725Ter
NM_001353194.2:c.1946C>G NP_001340123.1:p.Ser649Ter
NM_001353195.2:c.1757C>G NP_001340124.1:p.Ser586Ter
NM_001353196.2:c.2018C>G NP_001340125.1:p.Ser673Ter
NM_001353197.2:c.2012C>G NP_001340126.2:p.Ser671Ter
NM_001353198.2:c.2012C>G NP_001340127.2:p.Ser671Ter
NM_001353199.2:c.1823C>G NP_001340128.2:p.Ser608Ter
NM_001353200.2:c.1652C>G NP_001340129.1:p.Ser551Ter
NM_001374689.1:c.2096C>G NP_001361618.1:p.Ser699Ter
NM_001374690.1:c.1889C>G NP_001361619.1:p.Ser630Ter
NM_001374691.1:c.1757C>G NP_001361620.1:p.Ser586Ter
NM_001374692.1:c.1757C>G NP_001361621.1:p.Ser586Ter
NM_001374693.1:c.1757C>G NP_001361622.1:p.Ser586Ter
NM_001374695.1:c.1718C>G NP_001361624.1:p.Ser573Ter
NM_007171.4:c.2174C>G NP_009102.4:p.Ser725Ter
NR_148391.2:n.2142C>G
NR_148392.2:n.2360C>G
NR_148393.2:n.2281C>G
NR_148394.2:n.2035C>G
NR_148395.2:n.2433C>G
NR_148396.2:n.2067C>G
NR_148397.2:n.2192C>G
NR_148398.2:n.2147C>G
NR_148399.2:n.2673C>G
NR_148400.2:n.2272C>G