Canonical Allele Identifier: CA1308832561
Community Standard Title: NM_000079.4(CHRNA1):c.866G= (p.Ser289=)
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174750082C= , CM000664.2:g.174750082C= GRCh38
NC_000002.11:g.175614810C= , CM000664.1:g.175614810C= GRCh37
NC_000002.10:g.175323056C= NCBI36
NG_008172.1:g.19391G=

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.866G= MANE Select NP_000070.1:p.Ser289=
ENST00000348749.9:c.866G= MANE Select ENSP00000261008.5:p.Ser289=
NM_000079.3:c.866G= NP_000070.1:p.Ser289=
NM_001039523.2:c.941G= NP_001034612.1:p.Ser314=
NM_001039523.3:c.941G= NP_001034612.1:p.Ser314=
ENST00000261007.9:c.941G= ENSP00000261007.5:p.Ser314=
ENST00000409219.5:c.866G= ENSP00000386611.1:p.Ser289=
ENST00000409542.5:c.620G= ENSP00000387026.1:p.Ser207=
ENST00000435083.5:c.*510G= ENSP00000395805.1:n.*510G=
ENST00000636168.2:c.377G= ENSP00000490338.2:p.Ser126=
ENST00000672640.1:c.377G= ENSP00000500507.1:p.Ser126=
XM_017003256.1:c.962G= XP_016858745.1:p.Ser321=
XM_017003257.1:c.887G= XP_016858746.1:p.Ser296=