Canonical Allele Identifier: CA258185

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750082C>A , CM000664.2:g.174750082C>A	GRCh38
NC_000002.11:g.175614810C>A , CM000664.1:g.175614810C>A	GRCh37
NC_000002.10:g.175323056C>A	NCBI36
NG_008172.1:g.19391G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.866G>T MANE Select	NP_000070.1:p.Ser289Ile
ENST00000348749.9:c.866G>T MANE Select	ENSP00000261008.5:p.Ser289Ile
NM_000079.3:c.866G>T	NP_000070.1:p.Ser289Ile
NM_001039523.2:c.941G>T	NP_001034612.1:p.Ser314Ile
NM_001039523.3:c.941G>T	NP_001034612.1:p.Ser314Ile
ENST00000261007.9:c.941G>T	ENSP00000261007.5:p.Ser314Ile
ENST00000409219.5:c.866G>T	ENSP00000386611.1:p.Ser289Ile
ENST00000409542.5:c.620G>T	ENSP00000387026.1:p.Ser207Ile
ENST00000435083.5:c.*510G>T	ENSP00000395805.1:n.*510G>T
ENST00000636168.2:c.377G>T	ENSP00000490338.2:p.Ser126Ile
ENST00000672640.1:c.377G>T	ENSP00000500507.1:p.Ser126Ile
XM_017003256.1:c.962G>T	XP_016858745.1:p.Ser321Ile
XM_017003257.1:c.887G>T	XP_016858746.1:p.Ser296Ile