Canonical Allele Identifier: CA1974733
Community Standard Title: NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174764393A>G , CM000664.2:g.174764393A>G GRCh38
NC_000002.11:g.175629121A>G , CM000664.1:g.175629121A>G GRCh37
NC_000002.10:g.175337367A>G NCBI36
NG_008172.1:g.5080T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.2T>C MANE Select NP_000070.1:p.Met1Thr
ENST00000348749.9:c.2T>C MANE Select ENSP00000261008.5:p.Met1Thr
NM_000079.3:c.2T>C NP_000070.1:p.Met1Thr
NM_001039523.2:c.2T>C NP_001034612.1:p.Met1Thr
NM_001039523.3:c.2T>C NP_001034612.1:p.Met1Thr
ENST00000261007.9:c.2T>C ENSP00000261007.5:p.Met1Thr
ENST00000409219.5:c.2T>C ENSP00000386611.1:p.Met1Thr
ENST00000409323.1:c.2T>C ENSP00000386684.1:p.Met1Thr
ENST00000409542.5:c.2T>C ENSP00000387026.1:p.Met1Thr
ENST00000435083.5:c.2T>C ENSP00000395805.1:p.Met1Thr
ENST00000636168.2:c.-446-4760T>C ENSP00000490338.2:n.-446-4760T>C
ENST00000672640.1:c.-612T>C ENSP00000500507.1:n.-612T>C