Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523059G>C , CM000671.2:g.131523059G>C	GRCh38
NC_000009.11:g.134398446G>C , CM000671.1:g.134398446G>C	GRCh37
NC_000009.10:g.133388267G>C	NCBI36
NG_008896.1:g.25158G>C
NG_008896.2:g.25158G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1969G>C	ENSP00000343034.7:p.Ala657Pro
ENST00000404875.7:n.2671G>C
ENST00000423007.6:c.2188G>C	ENSP00000404119.2:p.Ala730Pro
ENST00000677295.2:c.*2475G>C	ENSP00000504346.2:n.*2475G>C
ENST00000678264.2:c.*2314G>C	ENSP00000503157.2:n.*2314G>C
ENST00000682070.1:n.2441G>C
ENST00000682639.1:c.128G>C
ENST00000682813.1:n.2528G>C
ENST00000683231.1:c.128G>C
ENST00000683392.1:n.4723G>C
ENST00000683712.1:n.2536G>C
ENST00000683900.1:n.4031G>C
ENST00000684062.1:n.2797G>C
ENST00000684399.1:c.128G>C
ENST00000684579.1:n.3977G>C
ENST00000341012.12:c.1969G>C	ENSP00000343034.7:p.Ala657Pro
ENST00000372220.5:c.1000G>C	ENSP00000361294.5:p.Ala334Pro
ENST00000372228.9:c.2197G>C	ENSP00000361302.3:p.Ala733Pro
ENST00000402686.8:c.2131G>C MANE Select	ENSP00000385797.4:p.Ala711Pro
ENST00000676640.1:c.2131G>C	ENSP00000503281.1:p.Ala711Pro
ENST00000676803.1:c.1192G>C	ENSP00000503093.1:p.Ala398Pro
ENST00000676835.1:c.*1346G>C	ENSP00000502911.1:n.*1346G>C
ENST00000677029.1:c.1675G>C	ENSP00000502936.1:p.Ala559Pro
ENST00000677099.1:c.*1841G>C	ENSP00000504553.1:n.*1841G>C
ENST00000677216.1:c.1780G>C	ENSP00000503772.1:p.Ala594Pro
ENST00000677295.1:c.*1353G>C	ENSP00000504346.1:n.*1353G>C
ENST00000677444.1:c.2076G>C
ENST00000677586.1:n.1498G>C
ENST00000677626.1:c.1780G>C	ENSP00000503552.1:p.Ala594Pro
ENST00000677853.1:c.*1139G>C	ENSP00000503488.1:n.*1139G>C
ENST00000678264.1:c.*1508G>C	ENSP00000503157.1:n.*1508G>C
ENST00000678303.1:c.2041G>C	ENSP00000503696.1:p.Ala681Pro
ENST00000678366.1:c.*2380G>C	ENSP00000504353.1:n.*2380G>C
ENST00000678546.1:c.*2076G>C	ENSP00000503062.1:n.*2076G>C
ENST00000678548.1:c.*2270G>C	ENSP00000503934.1:n.*2270G>C
ENST00000678626.1:n.1967G>C
ENST00000678739.1:c.*2297G>C	ENSP00000503806.1:n.*2297G>C
ENST00000678833.1:c.*1883G>C	ENSP00000503893.1:n.*1883G>C
ENST00000679023.1:c.1969G>C	ENSP00000503718.1:p.Ala657Pro
ENST00000679076.1:c.1750G>C
ENST00000679111.1:c.*887G>C	ENSP00000504257.1:n.*887G>C
ENST00000679189.1:c.1780G>C	ENSP00000503356.1:p.Ala594Pro
ENST00000341012.11:c.1969G>C	ENSP00000343034.7:p.Ala657Pro
ENST00000372220.4:c.994G>C	ENSP00000361294.4:p.Ala332Pro
ENST00000372228.7:c.2197G>C	ENSP00000361302.3:p.Ala733Pro
ENST00000402686.7:c.2131G>C	ENSP00000385797.3:p.Ala711Pro
ENST00000404875.6:c.1780G>C	ENSP00000384531.2:p.Ala594Pro
ENST00000423007.5:c.2131G>C	ENSP00000404119.1:p.Ala711Pro
ENST00000485278.5:n.2681G>C
NM_001077365.1:c.2131G>C	NP_001070833.1:p.Ala711Pro
NM_001077366.1:c.1969G>C	NP_001070834.1:p.Ala657Pro
NM_001136113.1:c.2131G>C	NP_001129585.1:p.Ala711Pro
NM_001136114.1:c.1780G>C	NP_001129586.1:p.Ala594Pro
NM_007171.3:c.2197G>C	NP_009102.3:p.Ala733Pro
XM_005272156.1:c.2197G>C	XP_005272213.1:p.Ala733Pro
XM_005272158.1:c.2035G>C	XP_005272215.1:p.Ala679Pro
XM_005272159.1:c.1846G>C	XP_005272216.1:p.Ala616Pro
XM_005272162.1:c.1000G>C	XP_005272219.1:p.Ala334Pro
XM_006716932.1:c.1846G>C	XP_006716995.1:p.Ala616Pro
XM_011518140.1:c.2050G>C	XP_011516442.1:p.Ala684Pro
XM_011518141.1:c.1984G>C	XP_011516443.1:p.Ala662Pro
XM_011518142.1:c.1888G>C	XP_011516444.1:p.Ala630Pro
XM_011518143.1:c.1882G>C	XP_011516445.1:p.Ala628Pro
XM_011518145.1:c.1741G>C	XP_011516447.1:p.Ala581Pro
XM_011518147.1:c.1069G>C	XP_011516449.1:p.Ala357Pro
XR_929703.1:n.2373G>C
NM_001353193.1:c.2197G>C	NP_001340122.1:p.Ala733Pro
NM_001353194.1:c.1969G>C	NP_001340123.1:p.Ala657Pro
NM_001353195.1:c.1780G>C	NP_001340124.1:p.Ala594Pro
NM_001353196.1:c.2041G>C	NP_001340125.1:p.Ala681Pro
NM_001353197.1:c.2035G>C	NP_001340126.1:p.Ala679Pro
NM_001353198.1:c.2035G>C	NP_001340127.1:p.Ala679Pro
NM_001353199.1:c.1846G>C	NP_001340128.1:p.Ala616Pro
NM_001353200.1:c.1675G>C	NP_001340129.1:p.Ala559Pro
NR_148391.1:n.2181G>C
NR_148392.1:n.2399G>C
NR_148393.1:n.2320G>C
NR_148394.1:n.2074G>C
NR_148395.1:n.2472G>C
NR_148396.1:n.2106G>C
NR_148397.1:n.2231G>C
NR_148398.1:n.2186G>C
NR_148399.1:n.2712G>C
NR_148400.1:n.2311G>C
XM_005272162.3:c.1000G>C	XP_005272219.1:p.Ala334Pro
XM_006716932.2:c.1846G>C	XP_006716995.1:p.Ala616Pro
XM_011518140.2:c.2050G>C	XP_011516442.1:p.Ala684Pro
XM_011518141.2:c.1984G>C	XP_011516443.1:p.Ala662Pro
XM_011518142.2:c.1888G>C	XP_011516444.1:p.Ala630Pro
XM_011518143.2:c.1882G>C	XP_011516445.1:p.Ala628Pro
XM_011518145.2:c.1741G>C	XP_011516447.1:p.Ala581Pro
XM_017014205.2:c.1000G>C	XP_016869694.1:p.Ala334Pro
XM_024447380.1:c.1000G>C	XP_024303148.1:p.Ala334Pro
XM_024447381.1:c.1306G>C	XP_024303149.1:p.Ala436Pro
XM_024447382.1:c.1000G>C	XP_024303150.1:p.Ala334Pro
XR_001746160.2:n.2301G>C
XR_001746162.2:n.2506G>C
XR_001746164.1:n.2223G>C
XR_001746166.2:n.2518G>C
NM_001077365.2:c.2131G>C MANE Select	NP_001070833.1:p.Ala711Pro
NM_001077366.2:c.1969G>C	NP_001070834.1:p.Ala657Pro
NM_001136113.2:c.2131G>C	NP_001129585.1:p.Ala711Pro
NM_001136114.2:c.1780G>C	NP_001129586.1:p.Ala594Pro
NM_001353193.2:c.2197G>C	NP_001340122.2:p.Ala733Pro
NM_001353194.2:c.1969G>C	NP_001340123.1:p.Ala657Pro
NM_001353195.2:c.1780G>C	NP_001340124.1:p.Ala594Pro
NM_001353196.2:c.2041G>C	NP_001340125.1:p.Ala681Pro
NM_001353197.2:c.2035G>C	NP_001340126.2:p.Ala679Pro
NM_001353198.2:c.2035G>C	NP_001340127.2:p.Ala679Pro
NM_001353199.2:c.1846G>C	NP_001340128.2:p.Ala616Pro
NM_001353200.2:c.1675G>C	NP_001340129.1:p.Ala559Pro
NM_001374689.1:c.2119G>C	NP_001361618.1:p.Ala707Pro
NM_001374690.1:c.1912G>C	NP_001361619.1:p.Ala638Pro
NM_001374691.1:c.1780G>C	NP_001361620.1:p.Ala594Pro
NM_001374692.1:c.1780G>C	NP_001361621.1:p.Ala594Pro
NM_001374693.1:c.1780G>C	NP_001361622.1:p.Ala594Pro
NM_001374695.1:c.1741G>C	NP_001361624.1:p.Ala581Pro
NM_007171.4:c.2197G>C	NP_009102.4:p.Ala733Pro
NR_148391.2:n.2165G>C
NR_148392.2:n.2383G>C
NR_148393.2:n.2304G>C
NR_148394.2:n.2058G>C
NR_148395.2:n.2456G>C
NR_148396.2:n.2090G>C
NR_148397.2:n.2215G>C
NR_148398.2:n.2170G>C
NR_148399.2:n.2696G>C
NR_148400.2:n.2295G>C

Linked Data

Genomic Alleles

Transcript Alleles