Canonical Allele Identifier: CA349338622
Community Standard Title: NM_000079.4(CHRNA1):c.778+2T>A
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174753501A>T , CM000664.2:g.174753501A>T GRCh38
NC_000002.11:g.175618229A>T , CM000664.1:g.175618229A>T GRCh37
NC_000002.10:g.175326475A>T NCBI36
NG_008172.1:g.15972T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.778+2T>A MANE Select NP_000070.1:n.778+2T>A
ENST00000348749.9:c.778+2T>A MANE Select ENSP00000261008.5:n.778+2T>A
NM_000079.3:c.778+2T>A NP_000070.1:n.778+2T>A
NM_001039523.2:c.853+2T>A NP_001034612.1:n.853+2T>A
NM_001039523.3:c.853+2T>A NP_001034612.1:n.853+2T>A
ENST00000261007.9:c.853+2T>A ENSP00000261007.5:n.853+2T>A
ENST00000409219.5:c.778+2T>A ENSP00000386611.1:n.778+2T>A
ENST00000409323.1:c.780T>A ENSP00000386684.1:p.Gly260=
ENST00000409542.5:c.532+2T>A ENSP00000387026.1:n.532+2T>A
ENST00000435083.5:c.*422+2T>A ENSP00000395805.1:n.*422+2T>A
ENST00000636168.2:c.289+2T>A ENSP00000490338.2:n.289+2T>A
ENST00000672640.1:c.289+2T>A ENSP00000500507.1:n.289+2T>A
XM_017003256.1:c.874+2T>A XP_016858745.1:n.874+2T>A
XM_017003257.1:c.799+2T>A XP_016858746.1:n.799+2T>A