Canonical Allele Identifier: CA349336328

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175614758A>C (hg19) ; chr2:g.174750030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750030A>C , CM000664.2:g.174750030A>C	GRCh38
NC_000002.11:g.175614758A>C , CM000664.1:g.175614758A>C	GRCh37
NC_000002.10:g.175323004A>C	NCBI36
NG_008172.1:g.19443T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.429T>G	ENSP00000490338.2:p.Ile143Met
ENST00000672640.1:c.429T>G	ENSP00000500507.1:p.Ile143Met
ENST00000261007.9:c.993T>G	ENSP00000261007.5:p.Ile331Met
ENST00000348749.9:c.918T>G MANE Select	ENSP00000261008.5:p.Ile306Met
ENST00000409219.5:c.918T>G	ENSP00000386611.1:p.Ile306Met
ENST00000409542.5:c.672T>G	ENSP00000387026.1:p.Ile224Met
ENST00000435083.5:c.*562T>G	ENSP00000395805.1:n.*562T>G
NM_000079.3:c.918T>G	NP_000070.1:p.Ile306Met
NM_001039523.2:c.993T>G	NP_001034612.1:p.Ile331Met
XM_017003256.1:c.1014T>G	XP_016858745.1:p.Ile338Met
XM_017003257.1:c.939T>G	XP_016858746.1:p.Ile313Met
NM_000079.4:c.918T>G MANE Select	NP_000070.1:p.Ile306Met
NM_001039523.3:c.993T>G	NP_001034612.1:p.Ile331Met