Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522070G>C , CM000671.2:g.131522070G>C	GRCh38
NC_000009.11:g.134397457G>C , CM000671.1:g.134397457G>C	GRCh37
NC_000009.10:g.133387278G>C	NCBI36
NG_008896.1:g.24169G>C
NG_008896.2:g.24169G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1687G>C	ENSP00000343034.7:p.Ala563Pro
ENST00000404875.7:n.2389G>C
ENST00000423007.6:c.1906G>C	ENSP00000404119.2:p.Ala636Pro
ENST00000677295.2:c.*2193G>C	ENSP00000504346.2:n.*2193G>C
ENST00000678264.2:c.*2032G>C	ENSP00000503157.2:n.*2032G>C
ENST00000682070.1:n.2291-132G>C
ENST00000682813.1:n.2253G>C
ENST00000683392.1:n.4573-132G>C
ENST00000683712.1:n.2254G>C
ENST00000683900.1:n.3749G>C
ENST00000684062.1:n.2515G>C
ENST00000684579.1:n.3695G>C
ENST00000684679.1:n.1076G>C
ENST00000341012.12:c.1687G>C	ENSP00000343034.7:p.Ala563Pro
ENST00000372220.5:c.718G>C	ENSP00000361294.5:p.Ala240Pro
ENST00000372228.9:c.1915G>C	ENSP00000361302.3:p.Ala639Pro
ENST00000402686.8:c.1849G>C MANE Select	ENSP00000385797.4:p.Ala617Pro
ENST00000676640.1:c.1849G>C	ENSP00000503281.1:p.Ala617Pro
ENST00000676803.1:c.910G>C	ENSP00000503093.1:p.Ala304Pro
ENST00000676835.1:c.*1064G>C	ENSP00000502911.1:n.*1064G>C
ENST00000677029.1:c.1393G>C	ENSP00000502936.1:p.Ala465Pro
ENST00000677099.1:c.*1559G>C	ENSP00000504553.1:n.*1559G>C
ENST00000677216.1:c.1498G>C	ENSP00000503772.1:p.Ala500Pro
ENST00000677221.1:n.874G>C
ENST00000677295.1:c.*1203-132G>C	ENSP00000504346.1:n.*1203-132G>C
ENST00000677444.1:c.1794G>C
ENST00000677586.1:n.1216G>C
ENST00000677626.1:c.1498G>C	ENSP00000503552.1:p.Ala500Pro
ENST00000677853.1:c.*857G>C	ENSP00000503488.1:n.*857G>C
ENST00000678202.1:n.1008G>C
ENST00000678264.1:c.*1226G>C	ENSP00000503157.1:n.*1226G>C
ENST00000678303.1:c.1759G>C	ENSP00000503696.1:p.Ala587Pro
ENST00000678366.1:c.*2098G>C	ENSP00000504353.1:n.*2098G>C
ENST00000678546.1:c.*1794G>C	ENSP00000503062.1:n.*1794G>C
ENST00000678548.1:c.*1988G>C	ENSP00000503934.1:n.*1988G>C
ENST00000678626.1:n.1685G>C
ENST00000678739.1:c.*2147-132G>C	ENSP00000503806.1:n.*2147-132G>C
ENST00000678833.1:c.*1601G>C	ENSP00000503893.1:n.*1601G>C
ENST00000679023.1:c.1687G>C	ENSP00000503718.1:p.Ala563Pro
ENST00000679076.1:c.1468G>C
ENST00000679111.1:c.*605G>C	ENSP00000504257.1:n.*605G>C
ENST00000679189.1:c.1498G>C	ENSP00000503356.1:p.Ala500Pro
ENST00000341012.11:c.1687G>C	ENSP00000343034.7:p.Ala563Pro
ENST00000372220.4:c.712G>C	ENSP00000361294.4:p.Ala238Pro
ENST00000372228.7:c.1915G>C	ENSP00000361302.3:p.Ala639Pro
ENST00000402686.7:c.1849G>C	ENSP00000385797.3:p.Ala617Pro
ENST00000404875.6:c.1498G>C	ENSP00000384531.2:p.Ala500Pro
ENST00000423007.5:c.1849G>C	ENSP00000404119.1:p.Ala617Pro
ENST00000485278.5:n.2399G>C
ENST00000494883.1:n.392G>C
NM_001077365.1:c.1849G>C	NP_001070833.1:p.Ala617Pro
NM_001077366.1:c.1687G>C	NP_001070834.1:p.Ala563Pro
NM_001136113.1:c.1849G>C	NP_001129585.1:p.Ala617Pro
NM_001136114.1:c.1498G>C	NP_001129586.1:p.Ala500Pro
NM_007171.3:c.1915G>C	NP_009102.3:p.Ala639Pro
XM_005272156.1:c.1915G>C	XP_005272213.1:p.Ala639Pro
XM_005272158.1:c.1753G>C	XP_005272215.1:p.Ala585Pro
XM_005272159.1:c.1564G>C	XP_005272216.1:p.Ala522Pro
XM_005272162.1:c.718G>C	XP_005272219.1:p.Ala240Pro
XM_006716932.1:c.1564G>C	XP_006716995.1:p.Ala522Pro
XM_011518140.1:c.1768G>C	XP_011516442.1:p.Ala590Pro
XM_011518141.1:c.1702G>C	XP_011516443.1:p.Ala568Pro
XM_011518142.1:c.1606G>C	XP_011516444.1:p.Ala536Pro
XM_011518143.1:c.1600G>C	XP_011516445.1:p.Ala534Pro
XM_011518145.1:c.1459G>C	XP_011516447.1:p.Ala487Pro
XM_011518147.1:c.787G>C	XP_011516449.1:p.Ala263Pro
XR_929703.1:n.2091G>C
NM_001353193.1:c.1915G>C	NP_001340122.1:p.Ala639Pro
NM_001353194.1:c.1687G>C	NP_001340123.1:p.Ala563Pro
NM_001353195.1:c.1498G>C	NP_001340124.1:p.Ala500Pro
NM_001353196.1:c.1759G>C	NP_001340125.1:p.Ala587Pro
NM_001353197.1:c.1753G>C	NP_001340126.1:p.Ala585Pro
NM_001353198.1:c.1753G>C	NP_001340127.1:p.Ala585Pro
NM_001353199.1:c.1564G>C	NP_001340128.1:p.Ala522Pro
NM_001353200.1:c.1393G>C	NP_001340129.1:p.Ala465Pro
NR_148391.1:n.1899G>C
NR_148392.1:n.2117G>C
NR_148393.1:n.2038G>C
NR_148394.1:n.1792G>C
NR_148395.1:n.2190G>C
NR_148396.1:n.1824G>C
NR_148397.1:n.1949G>C
NR_148398.1:n.1904G>C
NR_148399.1:n.2430G>C
NR_148400.1:n.2029G>C
XM_005272162.3:c.718G>C	XP_005272219.1:p.Ala240Pro
XM_006716932.2:c.1564G>C	XP_006716995.1:p.Ala522Pro
XM_011518140.2:c.1768G>C	XP_011516442.1:p.Ala590Pro
XM_011518141.2:c.1702G>C	XP_011516443.1:p.Ala568Pro
XM_011518142.2:c.1606G>C	XP_011516444.1:p.Ala536Pro
XM_011518143.2:c.1600G>C	XP_011516445.1:p.Ala534Pro
XM_011518145.2:c.1459G>C	XP_011516447.1:p.Ala487Pro
XM_017014205.2:c.718G>C	XP_016869694.1:p.Ala240Pro
XM_024447380.1:c.718G>C	XP_024303148.1:p.Ala240Pro
XM_024447381.1:c.1024G>C	XP_024303149.1:p.Ala342Pro
XM_024447382.1:c.718G>C	XP_024303150.1:p.Ala240Pro
XR_001746160.2:n.2019G>C
XR_001746162.2:n.2224G>C
XR_001746164.1:n.1941G>C
XR_001746166.2:n.2236G>C
NM_001077365.2:c.1849G>C MANE Select	NP_001070833.1:p.Ala617Pro
NM_001077366.2:c.1687G>C	NP_001070834.1:p.Ala563Pro
NM_001136113.2:c.1849G>C	NP_001129585.1:p.Ala617Pro
NM_001136114.2:c.1498G>C	NP_001129586.1:p.Ala500Pro
NM_001353193.2:c.1915G>C	NP_001340122.2:p.Ala639Pro
NM_001353194.2:c.1687G>C	NP_001340123.1:p.Ala563Pro
NM_001353195.2:c.1498G>C	NP_001340124.1:p.Ala500Pro
NM_001353196.2:c.1759G>C	NP_001340125.1:p.Ala587Pro
NM_001353197.2:c.1753G>C	NP_001340126.2:p.Ala585Pro
NM_001353198.2:c.1753G>C	NP_001340127.2:p.Ala585Pro
NM_001353199.2:c.1564G>C	NP_001340128.2:p.Ala522Pro
NM_001353200.2:c.1393G>C	NP_001340129.1:p.Ala465Pro
NM_001374689.1:c.1837G>C	NP_001361618.1:p.Ala613Pro
NM_001374690.1:c.1630G>C	NP_001361619.1:p.Ala544Pro
NM_001374691.1:c.1498G>C	NP_001361620.1:p.Ala500Pro
NM_001374692.1:c.1498G>C	NP_001361621.1:p.Ala500Pro
NM_001374693.1:c.1498G>C	NP_001361622.1:p.Ala500Pro
NM_001374695.1:c.1459G>C	NP_001361624.1:p.Ala487Pro
NM_007171.4:c.1915G>C	NP_009102.4:p.Ala639Pro
NR_148391.2:n.1883G>C
NR_148392.2:n.2101G>C
NR_148393.2:n.2022G>C
NR_148394.2:n.1776G>C
NR_148395.2:n.2174G>C
NR_148396.2:n.1808G>C
NR_148397.2:n.1933G>C
NR_148398.2:n.1888G>C
NR_148399.2:n.2414G>C
NR_148400.2:n.2013G>C

Linked Data

Genomic Alleles

Transcript Alleles