Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151572666C>T , CM000669.2:g.151572666C>T	GRCh38
NC_000007.13:g.151269752C>T , CM000669.1:g.151269752C>T	GRCh37
NC_000007.12:g.150900685C>T	NCBI36
NG_007486.1:g.309565G>A
NG_007486.2:g.309566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.323G>A	ENSP00000420645.3:p.Arg108Lys
ENST00000652321.2:c.1046G>A	ENSP00000498886.2:p.Arg349Lys
ENST00000287878.9:c.1049G>A MANE Select	ENSP00000287878.3:p.Arg350Lys
ENST00000476632.2:c.326G>A	ENSP00000419493.2:p.Arg109Lys
ENST00000478989.6:c.109G>A
ENST00000491938.6:n.392G>A
ENST00000492843.6:c.674G>A	ENSP00000419577.2:p.Arg225Lys
ENST00000650851.1:n.543G>A
ENST00000650858.1:c.266G>A	ENSP00000498384.1:p.Arg89Lys
ENST00000650948.1:n.1164G>A
ENST00000651188.1:c.*289G>A	ENSP00000498557.1:n.*289G>A
ENST00000651290.1:n.192G>A
ENST00000651303.1:c.*368G>A	ENSP00000498428.1:n.*368G>A
ENST00000651378.1:c.326G>A	ENSP00000499103.1:p.Arg109Lys
ENST00000651764.1:c.917G>A	ENSP00000498796.1:p.Arg306Lys
ENST00000651836.1:c.817G>A	ENSP00000499156.1:n.817G>A
ENST00000652047.1:c.914G>A	ENSP00000499111.1:p.Arg305Lys
ENST00000652136.1:n.782G>A
ENST00000652159.1:c.917G>A	ENSP00000499025.1:p.Arg306Lys
ENST00000652397.1:c.326G>A	ENSP00000498351.1:p.Arg109Lys
ENST00000287878.8:c.1049G>A	ENSP00000287878.3:p.Arg350Lys
ENST00000392801.6:c.917G>A	ENSP00000376549.2:p.Arg306Lys
ENST00000418337.6:c.326G>A	ENSP00000387386.2:p.Arg109Lys
ENST00000476632.1:c.326G>A	ENSP00000419493.1:p.Arg109Lys
ENST00000478989.5:c.101G>A	ENSP00000420645.1:p.Arg34Lys
ENST00000488258.5:c.*289G>A	ENSP00000420783.1:n.*289G>A
ENST00000491938.5:n.395G>A
ENST00000492843.5:c.677G>A	ENSP00000419577.1:p.Arg226Lys
ENST00000493872.5:c.*298G>A	ENSP00000417252.1:n.*298G>A
NM_001040633.1:c.917G>A	NP_001035723.1:p.Arg306Lys
NM_001304527.1:c.674G>A	NP_001291456.1:p.Arg225Lys
NM_001304531.1:c.326G>A	NP_001291460.1:p.Arg109Lys
NM_016203.3:c.1049G>A	NP_057287.2:p.Arg350Lys
NM_024429.1:c.326G>A	NP_077747.1:p.Arg109Lys
XM_005250002.2:c.1049G>A	XP_005250059.1:p.Arg350Lys
XM_005250004.2:c.917G>A	XP_005250061.1:p.Arg306Lys
XM_005250006.3:c.677G>A	XP_005250063.1:p.Arg226Lys
XM_006716021.2:c.1037G>A	XP_006716084.1:p.Arg346Lys
XM_011516282.1:c.1034G>A	XP_011514584.1:p.Arg345Lys
XM_011516283.1:c.1037G>A	XP_011514585.1:p.Arg346Lys
XM_011516284.1:c.1034G>A	XP_011514586.1:p.Arg345Lys
XM_011516285.1:c.326G>A	XP_011514587.1:p.Arg109Lys
XM_011516286.1:c.302G>A	XP_011514588.1:p.Arg101Lys
XM_011516287.1:c.266G>A	XP_011514589.1:p.Arg89Lys
NM_001363698.1:c.677G>A	NP_001350627.1:p.Arg226Lys
XM_005250002.4:c.1049G>A	XP_005250059.1:p.Arg350Lys
XM_005250004.4:c.917G>A	XP_005250061.1:p.Arg306Lys
XM_005250006.5:c.677G>A	XP_005250063.1:p.Arg226Lys
XM_011516285.2:c.326G>A	XP_011514587.1:p.Arg109Lys
XM_011516286.2:c.302G>A	XP_011514588.1:p.Arg101Lys
XM_017012268.2:c.914G>A	XP_016867757.1:p.Arg305Lys
XM_017012269.1:c.1046G>A	XP_016867758.1:p.Arg349Lys
XM_017012270.1:c.917G>A	XP_016867759.1:p.Arg306Lys
XM_017012271.2:c.914G>A	XP_016867760.1:p.Arg305Lys
XM_017012272.1:c.914G>A	XP_016867761.1:p.Arg305Lys
XM_017012274.2:c.323G>A	XP_016867763.1:p.Arg108Lys
XM_017012275.2:c.266G>A	XP_016867764.1:p.Arg89Lys
XM_017012276.2:c.323G>A	XP_016867765.1:p.Arg108Lys
XM_017012277.2:c.302G>A	XP_016867766.1:p.Arg101Lys
XM_017012278.1:c.266G>A	XP_016867767.1:p.Arg89Lys
XM_017012279.2:c.266G>A	XP_016867768.1:p.Arg89Lys
XM_017012280.2:c.266G>A	XP_016867769.1:p.Arg89Lys
XM_017012281.2:c.266G>A	XP_016867770.1:p.Arg89Lys
XM_024446786.1:c.917G>A	XP_024302554.1:p.Arg306Lys
XM_024446787.1:c.326G>A	XP_024302555.1:p.Arg109Lys
XM_024446788.1:c.323G>A	XP_024302556.1:p.Arg108Lys
XM_024446789.1:c.326G>A	XP_024302557.1:p.Arg109Lys
NM_016203.4:c.1049G>A MANE Select	NP_057287.2:p.Arg350Lys
NM_001040633.2:c.917G>A	NP_001035723.1:p.Arg306Lys
NM_001304527.2:c.674G>A	NP_001291456.1:p.Arg225Lys
NM_001304531.2:c.326G>A	NP_001291460.1:p.Arg109Lys
NM_001363698.2:c.677G>A	NP_001350627.1:p.Arg226Lys
NM_024429.2:c.326G>A	NP_077747.1:p.Arg109Lys

Linked Data

Genomic Alleles

Transcript Alleles