Canonical Allele Identifier: CA349336646

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175614811T>A (hg19) ; chr2:g.174750083T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750083T>A , CM000664.2:g.174750083T>A	GRCh38
NC_000002.11:g.175614811T>A , CM000664.1:g.175614811T>A	GRCh37
NC_000002.10:g.175323057T>A	NCBI36
NG_008172.1:g.19390A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.376A>T	ENSP00000490338.2:p.Ser126Cys
ENST00000672640.1:c.376A>T	ENSP00000500507.1:p.Ser126Cys
ENST00000261007.9:c.940A>T	ENSP00000261007.5:p.Ser314Cys
ENST00000348749.9:c.865A>T MANE Select	ENSP00000261008.5:p.Ser289Cys
ENST00000409219.5:c.865A>T	ENSP00000386611.1:p.Ser289Cys
ENST00000409542.5:c.619A>T	ENSP00000387026.1:p.Ser207Cys
ENST00000435083.5:c.*509A>T	ENSP00000395805.1:n.*509A>T
NM_000079.3:c.865A>T	NP_000070.1:p.Ser289Cys
NM_001039523.2:c.940A>T	NP_001034612.1:p.Ser314Cys
XM_017003256.1:c.961A>T	XP_016858745.1:p.Ser321Cys
XM_017003257.1:c.886A>T	XP_016858746.1:p.Ser296Cys
NM_000079.4:c.865A>T MANE Select	NP_000070.1:p.Ser289Cys
NM_001039523.3:c.940A>T	NP_001034612.1:p.Ser314Cys