Canonical Allele Identifier: CA349338630

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174753503C>A , CM000664.2:g.174753503C>A	GRCh38
NC_000002.11:g.175618231C>A , CM000664.1:g.175618231C>A	GRCh37
NC_000002.10:g.175326477C>A	NCBI36
NG_008172.1:g.15970G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.778G>T MANE Select	NP_000070.1:p.Gly260Trp
ENST00000348749.9:c.778G>T MANE Select	ENSP00000261008.5:p.Gly260Trp
NM_000079.3:c.778G>T	NP_000070.1:p.Gly260Trp
NM_001039523.2:c.853G>T	NP_001034612.1:p.Gly285Trp
NM_001039523.3:c.853G>T	NP_001034612.1:p.Gly285Trp
ENST00000261007.9:c.853G>T	ENSP00000261007.5:p.Gly285Trp
ENST00000409219.5:c.778G>T	ENSP00000386611.1:p.Gly260Trp
ENST00000409323.1:c.778G>T	ENSP00000386684.1:p.Gly260Cys
ENST00000409542.5:c.532G>T	ENSP00000387026.1:p.Gly178Trp
ENST00000435083.5:c.*422G>T	ENSP00000395805.1:n.*422G>T
ENST00000636168.2:c.289G>T	ENSP00000490338.2:p.Gly97Trp
ENST00000672640.1:c.289G>T	ENSP00000500507.1:p.Gly97Trp
XM_017003256.1:c.874G>T	XP_016858745.1:p.Gly292Trp
XM_017003257.1:c.799G>T	XP_016858746.1:p.Gly267Trp