Canonical Allele Identifier: CA246525

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174753626G>A , CM000664.2:g.174753626G>A	GRCh38
NC_000002.11:g.175618354G>A , CM000664.1:g.175618354G>A	GRCh37
NC_000002.10:g.175326600G>A	NCBI36
NG_008172.1:g.15847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.166C>T	ENSP00000490338.2:p.Leu56=
ENST00000672640.1:c.166C>T	ENSP00000500507.1:p.Leu56=
ENST00000261007.9:c.730C>T	ENSP00000261007.5:p.Leu244=
ENST00000348749.9:c.655C>T MANE Select	ENSP00000261008.5:p.Leu219=
ENST00000409219.5:c.655C>T	ENSP00000386611.1:p.Leu219=
ENST00000409323.1:c.655C>T	ENSP00000386684.1:p.Leu219=
ENST00000409542.5:c.409C>T	ENSP00000387026.1:p.Leu137=
ENST00000435083.5:c.*299C>T	ENSP00000395805.1:n.*299C>T
NM_000079.3:c.655C>T	NP_000070.1:p.Leu219=
NM_001039523.2:c.730C>T	NP_001034612.1:p.Leu244=
XM_017003256.1:c.751C>T	XP_016858745.1:p.Leu251=
XM_017003257.1:c.676C>T	XP_016858746.1:p.Leu226=
NM_000079.4:c.655C>T MANE Select	NP_000070.1:p.Leu219=
NM_001039523.3:c.730C>T	NP_001034612.1:p.Leu244=