Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85390851G>A , CM000664.2:g.85390851G>A	GRCh38
NC_000002.11:g.85617974G>A , CM000664.1:g.85617974G>A	GRCh37
NC_000002.10:g.85471485G>A	NCBI36
NG_051291.1:g.41458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409013.8:c.1035G>A MANE Select	ENSP00000387139.3:p.Leu345=
ENST00000315658.11:c.*353G>A	ENSP00000318264.7:n.*353G>A
ENST00000393852.8:c.1035G>A	ENSP00000377434.4:p.Leu345=
ENST00000409013.7:c.1035G>A	ENSP00000387139.3:p.Leu345=
ENST00000409344.7:c.1035G>A	ENSP00000386248.3:p.Leu345=
ENST00000409890.6:c.1035G>A	ENSP00000386304.2:p.Leu345=
ENST00000410106.5:c.*707G>A	ENSP00000387134.1:n.*707G>A
ENST00000414593.5:c.*426G>A	ENSP00000394774.1:n.*426G>A
ENST00000423095.7:c.*420G>A	ENSP00000408745.3:n.*420G>A
ENST00000444108.7:c.*398G>A	ENSP00000401984.2:n.*398G>A
ENST00000446464.7:c.*892G>A	ENSP00000407599.3:n.*892G>A
ENST00000490508.5:n.1247G>A
ENST00000496957.1:n.463G>A
NM_001135021.1:c.1035G>A	NP_001128493.1:p.Leu345=
NM_001135022.1:c.1035G>A	NP_001128494.1:p.Leu345=
NM_001135023.1:c.1035G>A	NP_001128495.1:p.Leu345=
NM_032213.4:c.*353G>A	NP_115589.2:n.*353G>A
XR_426997.1:n.1314G>A
NM_001329791.1:c.1035G>A	NP_001316720.1:p.Leu345=
NM_001329792.1:c.1035G>A	NP_001316721.1:p.Leu345=
NM_001329793.1:c.1035G>A	NP_001316722.1:p.Leu345=
NR_138131.1:n.1679G>A
NR_138132.1:n.1691G>A
NR_138133.1:n.1382G>A
XM_024453169.1:c.*353G>A	XP_024308937.1:n.*353G>A
XM_024453170.1:c.*353G>A	XP_024308938.1:n.*353G>A
XM_024453171.1:c.*353G>A	XP_024308939.1:n.*353G>A
XM_024453172.1:c.*353G>A	XP_024308940.1:n.*353G>A
XR_001738978.1:n.1644G>A
XR_001738979.1:n.1549G>A
NM_001135022.2:c.1035G>A MANE Select	NP_001128494.1:p.Leu345=
NM_001135021.2:c.1035G>A	NP_001128493.1:p.Leu345=
NM_001135023.2:c.1035G>A	NP_001128495.1:p.Leu345=
NM_001329791.2:c.1035G>A	NP_001316720.1:p.Leu345=
NM_001329792.2:c.1035G>A	NP_001316721.1:p.Leu345=
NM_001329793.2:c.1035G>A	NP_001316722.1:p.Leu345=
NR_138131.2:n.1630G>A
NR_138132.2:n.1642G>A
NR_138133.2:n.1333G>A