Canonical Allele Identifier: CA1974307

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174748205G>A , CM000664.2:g.174748205G>A	GRCh38
NC_000002.11:g.175612933G>A , CM000664.1:g.175612933G>A	GRCh37
NC_000002.10:g.175321179G>A	NCBI36
NG_008172.1:g.21268C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.1293C>T MANE Select	NP_000070.1:p.Leu431=
ENST00000348749.9:c.1293C>T MANE Select	ENSP00000261008.5:p.Leu431=
NM_000079.3:c.1293C>T	NP_000070.1:p.Leu431=
NM_001039523.2:c.1368C>T	NP_001034612.1:p.Leu456=
NM_001039523.3:c.1368C>T	NP_001034612.1:p.Leu456=
ENST00000261007.9:c.1368C>T	ENSP00000261007.5:p.Leu456=
ENST00000409219.5:c.1053C>T	ENSP00000386611.1:p.Leu351=
ENST00000409542.5:c.1047C>T	ENSP00000387026.1:p.Leu349=
ENST00000435083.5:c.*937C>T	ENSP00000395805.1:n.*937C>T
ENST00000636168.2:c.804C>T	ENSP00000490338.2:p.Leu268=
ENST00000672640.1:c.804C>T	ENSP00000500507.1:p.Leu268=
XM_017003256.1:c.1389C>T	XP_016858745.1:p.Leu463=
XM_017003257.1:c.1314C>T	XP_016858746.1:p.Leu438=