Canonical Allele Identifier: CA1974373

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174748758T>C , CM000664.2:g.174748758T>C	GRCh38
NC_000002.11:g.175613486T>C , CM000664.1:g.175613486T>C	GRCh37
NC_000002.10:g.175321732T>C	NCBI36
NG_008172.1:g.20715A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.1064A>G MANE Select	NP_000070.1:p.Glu355Gly
ENST00000348749.9:c.1064A>G MANE Select	ENSP00000261008.5:p.Glu355Gly
NM_000079.3:c.1064A>G	NP_000070.1:p.Glu355Gly
NM_001039523.2:c.1139A>G	NP_001034612.1:p.Glu380Gly
NM_001039523.3:c.1139A>G	NP_001034612.1:p.Glu380Gly
ENST00000261007.9:c.1139A>G	ENSP00000261007.5:p.Glu380Gly
ENST00000409219.5:c.1003-503A>G	ENSP00000386611.1:n.1003-503A>G
ENST00000409542.5:c.818A>G	ENSP00000387026.1:p.Glu273Gly
ENST00000435083.5:c.*708A>G	ENSP00000395805.1:n.*708A>G
ENST00000636168.2:c.575A>G	ENSP00000490338.2:p.Glu192Gly
ENST00000672640.1:c.575A>G	ENSP00000500507.1:p.Glu192Gly
XM_017003256.1:c.1160A>G	XP_016858745.1:p.Glu387Gly
XM_017003257.1:c.1085A>G	XP_016858746.1:p.Glu362Gly