Canonical Allele Identifier: CA349341639

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174754389T>A , CM000664.2:g.174754389T>A	GRCh38
NC_000002.11:g.175619117T>A , CM000664.1:g.175619117T>A	GRCh37
NC_000002.10:g.175327363T>A	NCBI36
NG_008172.1:g.15084A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.370A>T MANE Select	NP_000070.1:p.Lys124Ter
ENST00000348749.9:c.370A>T MANE Select	ENSP00000261008.5:p.Lys124Ter
NM_000079.3:c.370A>T	NP_000070.1:p.Lys124Ter
NM_001039523.2:c.445A>T	NP_001034612.1:p.Lys149Ter
NM_001039523.3:c.445A>T	NP_001034612.1:p.Lys149Ter
ENST00000261007.9:c.445A>T	ENSP00000261007.5:p.Lys149Ter
ENST00000409219.5:c.370A>T	ENSP00000386611.1:p.Lys124Ter
ENST00000409323.1:c.370A>T	ENSP00000386684.1:p.Lys124Ter
ENST00000409542.5:c.235-111A>T	ENSP00000387026.1:n.235-111A>T
ENST00000435083.5:c.*14A>T	ENSP00000395805.1:n.*14A>T
ENST00000636168.2:c.-120A>T	ENSP00000490338.2:n.-120A>T
ENST00000672640.1:c.-120A>T	ENSP00000500507.1:n.-120A>T
XM_017003256.1:c.466A>T	XP_016858745.1:p.Lys156Ter
XM_017003257.1:c.391A>T	XP_016858746.1:p.Lys131Ter