Canonical Allele Identifier: CA1308832581
Community Standard Title: NM_000079.4(CHRNA1):c.805G= (p.Val269=)
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174750143C= , CM000664.2:g.174750143C= GRCh38
NC_000002.11:g.175614871C= , CM000664.1:g.175614871C= GRCh37
NC_000002.10:g.175323117C= NCBI36
NG_008172.1:g.19330G=

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.805G= MANE Select NP_000070.1:p.Val269=
ENST00000348749.9:c.805G= MANE Select ENSP00000261008.5:p.Val269=
NM_000079.3:c.805G= NP_000070.1:p.Val269=
NM_001039523.2:c.880G= NP_001034612.1:p.Val294=
NM_001039523.3:c.880G= NP_001034612.1:p.Val294=
ENST00000261007.9:c.880G= ENSP00000261007.5:p.Val294=
ENST00000409219.5:c.805G= ENSP00000386611.1:p.Val269=
ENST00000409542.5:c.559G= ENSP00000387026.1:p.Val187=
ENST00000435083.5:c.*449G= ENSP00000395805.1:n.*449G=
ENST00000636168.2:c.316G= ENSP00000490338.2:p.Val106=
ENST00000672640.1:c.316G= ENSP00000500507.1:p.Val106=
XM_017003256.1:c.901G= XP_016858745.1:p.Val301=
XM_017003257.1:c.826G= XP_016858746.1:p.Val276=