Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522126G>C , CM000671.2:g.131522126G>C	GRCh38
NC_000009.11:g.134397513G>C , CM000671.1:g.134397513G>C	GRCh37
NC_000009.10:g.133387334G>C	NCBI36
NG_008896.1:g.24225G>C
NG_008896.2:g.24225G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1743G>C	ENSP00000343034.7:p.Met581Ile
ENST00000404875.7:n.2445G>C
ENST00000423007.6:c.1962G>C	ENSP00000404119.2:p.Met654Ile
ENST00000677295.2:c.*2249G>C	ENSP00000504346.2:n.*2249G>C
ENST00000678264.2:c.*2088G>C	ENSP00000503157.2:n.*2088G>C
ENST00000682070.1:n.2291-76G>C
ENST00000682813.1:n.2309G>C
ENST00000683392.1:n.4573-76G>C
ENST00000683712.1:n.2310G>C
ENST00000683900.1:n.3805G>C
ENST00000684062.1:n.2571G>C
ENST00000684579.1:n.3751G>C
ENST00000684679.1:n.1132G>C
ENST00000341012.12:c.1743G>C	ENSP00000343034.7:p.Met581Ile
ENST00000372220.5:c.774G>C	ENSP00000361294.5:p.Met258Ile
ENST00000372228.9:c.1971G>C	ENSP00000361302.3:p.Met657Ile
ENST00000402686.8:c.1905G>C MANE Select	ENSP00000385797.4:p.Met635Ile
ENST00000676640.1:c.1905G>C	ENSP00000503281.1:p.Met635Ile
ENST00000676803.1:c.966G>C	ENSP00000503093.1:p.Met322Ile
ENST00000676835.1:c.*1120G>C	ENSP00000502911.1:n.*1120G>C
ENST00000677029.1:c.1449G>C	ENSP00000502936.1:p.Met483Ile
ENST00000677099.1:c.*1615G>C	ENSP00000504553.1:n.*1615G>C
ENST00000677216.1:c.1554G>C	ENSP00000503772.1:p.Met518Ile
ENST00000677221.1:n.930G>C
ENST00000677295.1:c.*1203-76G>C	ENSP00000504346.1:n.*1203-76G>C
ENST00000677444.1:c.1850G>C
ENST00000677586.1:n.1272G>C
ENST00000677626.1:c.1554G>C	ENSP00000503552.1:p.Met518Ile
ENST00000677853.1:c.*913G>C	ENSP00000503488.1:n.*913G>C
ENST00000678202.1:n.1064G>C
ENST00000678264.1:c.*1282G>C	ENSP00000503157.1:n.*1282G>C
ENST00000678303.1:c.1815G>C	ENSP00000503696.1:p.Met605Ile
ENST00000678366.1:c.*2154G>C	ENSP00000504353.1:n.*2154G>C
ENST00000678546.1:c.*1850G>C	ENSP00000503062.1:n.*1850G>C
ENST00000678548.1:c.*2044G>C	ENSP00000503934.1:n.*2044G>C
ENST00000678626.1:n.1741G>C
ENST00000678739.1:c.*2147-76G>C	ENSP00000503806.1:n.*2147-76G>C
ENST00000678833.1:c.*1657G>C	ENSP00000503893.1:n.*1657G>C
ENST00000679023.1:c.1743G>C	ENSP00000503718.1:p.Met581Ile
ENST00000679076.1:c.1524G>C
ENST00000679111.1:c.*661G>C	ENSP00000504257.1:n.*661G>C
ENST00000679189.1:c.1554G>C	ENSP00000503356.1:p.Met518Ile
ENST00000341012.11:c.1743G>C	ENSP00000343034.7:p.Met581Ile
ENST00000372220.4:c.768G>C	ENSP00000361294.4:p.Met256Ile
ENST00000372228.7:c.1971G>C	ENSP00000361302.3:p.Met657Ile
ENST00000402686.7:c.1905G>C	ENSP00000385797.3:p.Met635Ile
ENST00000404875.6:c.1554G>C	ENSP00000384531.2:p.Met518Ile
ENST00000423007.5:c.1905G>C	ENSP00000404119.1:p.Met635Ile
ENST00000485278.5:n.2455G>C
ENST00000494883.1:n.448G>C
NM_001077365.1:c.1905G>C	NP_001070833.1:p.Met635Ile
NM_001077366.1:c.1743G>C	NP_001070834.1:p.Met581Ile
NM_001136113.1:c.1905G>C	NP_001129585.1:p.Met635Ile
NM_001136114.1:c.1554G>C	NP_001129586.1:p.Met518Ile
NM_007171.3:c.1971G>C	NP_009102.3:p.Met657Ile
XM_005272156.1:c.1971G>C	XP_005272213.1:p.Met657Ile
XM_005272158.1:c.1809G>C	XP_005272215.1:p.Met603Ile
XM_005272159.1:c.1620G>C	XP_005272216.1:p.Met540Ile
XM_005272162.1:c.774G>C	XP_005272219.1:p.Met258Ile
XM_006716932.1:c.1620G>C	XP_006716995.1:p.Met540Ile
XM_011518140.1:c.1824G>C	XP_011516442.1:p.Met608Ile
XM_011518141.1:c.1758G>C	XP_011516443.1:p.Met586Ile
XM_011518142.1:c.1662G>C	XP_011516444.1:p.Met554Ile
XM_011518143.1:c.1656G>C	XP_011516445.1:p.Met552Ile
XM_011518145.1:c.1515G>C	XP_011516447.1:p.Met505Ile
XM_011518147.1:c.843G>C	XP_011516449.1:p.Met281Ile
XR_929703.1:n.2147G>C
NM_001353193.1:c.1971G>C	NP_001340122.1:p.Met657Ile
NM_001353194.1:c.1743G>C	NP_001340123.1:p.Met581Ile
NM_001353195.1:c.1554G>C	NP_001340124.1:p.Met518Ile
NM_001353196.1:c.1815G>C	NP_001340125.1:p.Met605Ile
NM_001353197.1:c.1809G>C	NP_001340126.1:p.Met603Ile
NM_001353198.1:c.1809G>C	NP_001340127.1:p.Met603Ile
NM_001353199.1:c.1620G>C	NP_001340128.1:p.Met540Ile
NM_001353200.1:c.1449G>C	NP_001340129.1:p.Met483Ile
NR_148391.1:n.1955G>C
NR_148392.1:n.2173G>C
NR_148393.1:n.2094G>C
NR_148394.1:n.1848G>C
NR_148395.1:n.2246G>C
NR_148396.1:n.1880G>C
NR_148397.1:n.2005G>C
NR_148398.1:n.1960G>C
NR_148399.1:n.2486G>C
NR_148400.1:n.2085G>C
XM_005272162.3:c.774G>C	XP_005272219.1:p.Met258Ile
XM_006716932.2:c.1620G>C	XP_006716995.1:p.Met540Ile
XM_011518140.2:c.1824G>C	XP_011516442.1:p.Met608Ile
XM_011518141.2:c.1758G>C	XP_011516443.1:p.Met586Ile
XM_011518142.2:c.1662G>C	XP_011516444.1:p.Met554Ile
XM_011518143.2:c.1656G>C	XP_011516445.1:p.Met552Ile
XM_011518145.2:c.1515G>C	XP_011516447.1:p.Met505Ile
XM_017014205.2:c.774G>C	XP_016869694.1:p.Met258Ile
XM_024447380.1:c.774G>C	XP_024303148.1:p.Met258Ile
XM_024447381.1:c.1080G>C	XP_024303149.1:p.Met360Ile
XM_024447382.1:c.774G>C	XP_024303150.1:p.Met258Ile
XR_001746160.2:n.2075G>C
XR_001746162.2:n.2280G>C
XR_001746164.1:n.1997G>C
XR_001746166.2:n.2292G>C
NM_001077365.2:c.1905G>C MANE Select	NP_001070833.1:p.Met635Ile
NM_001077366.2:c.1743G>C	NP_001070834.1:p.Met581Ile
NM_001136113.2:c.1905G>C	NP_001129585.1:p.Met635Ile
NM_001136114.2:c.1554G>C	NP_001129586.1:p.Met518Ile
NM_001353193.2:c.1971G>C	NP_001340122.2:p.Met657Ile
NM_001353194.2:c.1743G>C	NP_001340123.1:p.Met581Ile
NM_001353195.2:c.1554G>C	NP_001340124.1:p.Met518Ile
NM_001353196.2:c.1815G>C	NP_001340125.1:p.Met605Ile
NM_001353197.2:c.1809G>C	NP_001340126.2:p.Met603Ile
NM_001353198.2:c.1809G>C	NP_001340127.2:p.Met603Ile
NM_001353199.2:c.1620G>C	NP_001340128.2:p.Met540Ile
NM_001353200.2:c.1449G>C	NP_001340129.1:p.Met483Ile
NM_001374689.1:c.1893G>C	NP_001361618.1:p.Met631Ile
NM_001374690.1:c.1686G>C	NP_001361619.1:p.Met562Ile
NM_001374691.1:c.1554G>C	NP_001361620.1:p.Met518Ile
NM_001374692.1:c.1554G>C	NP_001361621.1:p.Met518Ile
NM_001374693.1:c.1554G>C	NP_001361622.1:p.Met518Ile
NM_001374695.1:c.1515G>C	NP_001361624.1:p.Met505Ile
NM_007171.4:c.1971G>C	NP_009102.4:p.Met657Ile
NR_148391.2:n.1939G>C
NR_148392.2:n.2157G>C
NR_148393.2:n.2078G>C
NR_148394.2:n.1832G>C
NR_148395.2:n.2230G>C
NR_148396.2:n.1864G>C
NR_148397.2:n.1989G>C
NR_148398.2:n.1944G>C
NR_148399.2:n.2470G>C
NR_148400.2:n.2069G>C

Linked Data

Genomic Alleles

Transcript Alleles