Canonical Allele Identifier: CA1974372

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174748755T>G , CM000664.2:g.174748755T>G	GRCh38
NC_000002.11:g.175613483T>G , CM000664.1:g.175613483T>G	GRCh37
NC_000002.10:g.175321729T>G	NCBI36
NG_008172.1:g.20718A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.1067A>C MANE Select	NP_000070.1:p.Lys356Thr
ENST00000348749.9:c.1067A>C MANE Select	ENSP00000261008.5:p.Lys356Thr
NM_000079.3:c.1067A>C	NP_000070.1:p.Lys356Thr
NM_001039523.2:c.1142A>C	NP_001034612.1:p.Lys381Thr
NM_001039523.3:c.1142A>C	NP_001034612.1:p.Lys381Thr
ENST00000261007.9:c.1142A>C	ENSP00000261007.5:p.Lys381Thr
ENST00000409219.5:c.1003-500A>C	ENSP00000386611.1:n.1003-500A>C
ENST00000409542.5:c.821A>C	ENSP00000387026.1:p.Lys274Thr
ENST00000435083.5:c.*711A>C	ENSP00000395805.1:n.*711A>C
ENST00000636168.2:c.578A>C	ENSP00000490338.2:p.Lys193Thr
ENST00000672640.1:c.578A>C	ENSP00000500507.1:p.Lys193Thr
XM_017003256.1:c.1163A>C	XP_016858745.1:p.Lys388Thr
XM_017003257.1:c.1088A>C	XP_016858746.1:p.Lys363Thr