Canonical Allele Identifier: CA349336086

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175614703T>C (hg19) ; chr2:g.174749975T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174749975T>C , CM000664.2:g.174749975T>C	GRCh38
NC_000002.11:g.175614703T>C , CM000664.1:g.175614703T>C	GRCh37
NC_000002.10:g.175322949T>C	NCBI36
NG_008172.1:g.19498A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.484A>G	ENSP00000490338.2:p.Thr162Ala
ENST00000672640.1:c.484A>G	ENSP00000500507.1:p.Thr162Ala
ENST00000261007.9:c.1048A>G	ENSP00000261007.5:p.Thr350Ala
ENST00000348749.9:c.973A>G MANE Select	ENSP00000261008.5:p.Thr325Ala
ENST00000409219.5:c.973A>G	ENSP00000386611.1:p.Thr325Ala
ENST00000409542.5:c.727A>G	ENSP00000387026.1:p.Thr243Ala
ENST00000435083.5:c.*617A>G	ENSP00000395805.1:n.*617A>G
NM_000079.3:c.973A>G	NP_000070.1:p.Thr325Ala
NM_001039523.2:c.1048A>G	NP_001034612.1:p.Thr350Ala
XM_017003256.1:c.1069A>G	XP_016858745.1:p.Thr357Ala
XM_017003257.1:c.994A>G	XP_016858746.1:p.Thr332Ala
NM_000079.4:c.973A>G MANE Select	NP_000070.1:p.Thr325Ala
NM_001039523.3:c.1048A>G	NP_001034612.1:p.Thr350Ala