Canonical Allele Identifier: CA1308836708
Community Standard Title: NM_000079.4(CHRNA1):c.175C= (p.Gln59=)
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174759502G= , CM000664.2:g.174759502G= GRCh38
NC_000002.11:g.175624230G= , CM000664.1:g.175624230G= GRCh37
NC_000002.10:g.175332476G= NCBI36
NG_008172.1:g.9971C=

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.175C= MANE Select NP_000070.1:p.Gln59=
ENST00000348749.9:c.175C= MANE Select ENSP00000261008.5:p.Gln59=
NM_000079.3:c.175C= NP_000070.1:p.Gln59=
NM_001039523.2:c.175C= NP_001034612.1:p.Gln59=
NM_001039523.3:c.175C= NP_001034612.1:p.Gln59=
ENST00000261007.9:c.175C= ENSP00000261007.5:p.Gln59=
ENST00000409219.5:c.175C= ENSP00000386611.1:p.Gln59=
ENST00000409323.1:c.175C= ENSP00000386684.1:p.Gln59=
ENST00000409542.5:c.175C= ENSP00000387026.1:p.Gln59=
ENST00000435083.5:c.175C= ENSP00000395805.1:p.Gln59=
ENST00000636168.2:c.-315C= ENSP00000490338.2:n.-315C=
ENST00000672640.1:c.-315C= ENSP00000500507.1:n.-315C=
XM_017003256.1:c.196C= XP_016858745.1:p.Gln66=
XM_017003257.1:c.196C= XP_016858746.1:p.Gln66=