Canonical Allele Identifier: CA1974546

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174754305C>T , CM000664.2:g.174754305C>T	GRCh38
NC_000002.11:g.175619033C>T , CM000664.1:g.175619033C>T	GRCh37
NC_000002.10:g.175327279C>T	NCBI36
NG_008172.1:g.15168G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.454G>A MANE Select	NP_000070.1:p.Val152Ile
ENST00000348749.9:c.454G>A MANE Select	ENSP00000261008.5:p.Val152Ile
NM_000079.3:c.454G>A	NP_000070.1:p.Val152Ile
NM_001039523.2:c.529G>A	NP_001034612.1:p.Val177Ile
NM_001039523.3:c.529G>A	NP_001034612.1:p.Val177Ile
ENST00000261007.9:c.529G>A	ENSP00000261007.5:p.Val177Ile
ENST00000409219.5:c.454G>A	ENSP00000386611.1:p.Val152Ile
ENST00000409323.1:c.454G>A	ENSP00000386684.1:p.Val152Ile
ENST00000409542.5:c.235-27G>A	ENSP00000387026.1:n.235-27G>A
ENST00000435083.5:c.*98G>A	ENSP00000395805.1:n.*98G>A
ENST00000636168.2:c.-36G>A	ENSP00000490338.2:n.-36G>A
ENST00000672640.1:c.-36G>A	ENSP00000500507.1:n.-36G>A
XM_017003256.1:c.550G>A	XP_016858745.1:p.Val184Ile
XM_017003257.1:c.475G>A	XP_016858746.1:p.Val159Ile