Canonical Allele Identifier: CA349340914

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175618972T>G (hg19) ; chr2:g.174754244T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174754244T>G , CM000664.2:g.174754244T>G	GRCh38
NC_000002.11:g.175618972T>G , CM000664.1:g.175618972T>G	GRCh37
NC_000002.10:g.175327218T>G	NCBI36
NG_008172.1:g.15229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.26A>C	ENSP00000490338.2:p.Asp9Ala
ENST00000672640.1:c.26A>C	ENSP00000500507.1:p.Asp9Ala
ENST00000261007.9:c.590A>C	ENSP00000261007.5:p.Asp197Ala
ENST00000348749.9:c.515A>C MANE Select	ENSP00000261008.5:p.Asp172Ala
ENST00000409219.5:c.515A>C	ENSP00000386611.1:p.Asp172Ala
ENST00000409323.1:c.515A>C	ENSP00000386684.1:p.Asp172Ala
ENST00000409542.5:c.269A>C	ENSP00000387026.1:p.Asp90Ala
ENST00000435083.5:c.*159A>C	ENSP00000395805.1:n.*159A>C
NM_000079.3:c.515A>C	NP_000070.1:p.Asp172Ala
NM_001039523.2:c.590A>C	NP_001034612.1:p.Asp197Ala
XM_017003256.1:c.611A>C	XP_016858745.1:p.Asp204Ala
XM_017003257.1:c.536A>C	XP_016858746.1:p.Asp179Ala
NM_000079.4:c.515A>C MANE Select	NP_000070.1:p.Asp172Ala
NM_001039523.3:c.590A>C	NP_001034612.1:p.Asp197Ala