Canonical Allele Identifier: CA349340895

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175618970C>A (hg19) ; chr2:g.174754242C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174754242C>A , CM000664.2:g.174754242C>A	GRCh38
NC_000002.11:g.175618970C>A , CM000664.1:g.175618970C>A	GRCh37
NC_000002.10:g.175327216C>A	NCBI36
NG_008172.1:g.15231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.28G>T	ENSP00000490338.2:p.Gly10Cys
ENST00000672640.1:c.28G>T	ENSP00000500507.1:p.Gly10Cys
ENST00000261007.9:c.592G>T	ENSP00000261007.5:p.Gly198Cys
ENST00000348749.9:c.517G>T MANE Select	ENSP00000261008.5:p.Gly173Cys
ENST00000409219.5:c.517G>T	ENSP00000386611.1:p.Gly173Cys
ENST00000409323.1:c.517G>T	ENSP00000386684.1:p.Gly173Cys
ENST00000409542.5:c.271G>T	ENSP00000387026.1:p.Gly91Cys
ENST00000435083.5:c.*161G>T	ENSP00000395805.1:n.*161G>T
NM_000079.3:c.517G>T	NP_000070.1:p.Gly173Cys
NM_001039523.2:c.592G>T	NP_001034612.1:p.Gly198Cys
XM_017003256.1:c.613G>T	XP_016858745.1:p.Gly205Cys
XM_017003257.1:c.538G>T	XP_016858746.1:p.Gly180Cys
NM_000079.4:c.517G>T MANE Select	NP_000070.1:p.Gly173Cys
NM_001039523.3:c.592G>T	NP_001034612.1:p.Gly198Cys