Canonical Allele Identifier: CA349343847

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174757656A>G , CM000664.2:g.174757656A>G	GRCh38
NC_000002.11:g.175622384A>G , CM000664.1:g.175622384A>G	GRCh37
NC_000002.10:g.175330630A>G	NCBI36
NG_008172.1:g.11817T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.254T>C MANE Select	NP_000070.1:p.Leu85Pro
ENST00000348749.9:c.254T>C MANE Select	ENSP00000261008.5:p.Leu85Pro
NM_000079.3:c.254T>C	NP_000070.1:p.Leu85Pro
NM_001039523.2:c.329T>C	NP_001034612.1:p.Leu110Pro
NM_001039523.3:c.329T>C	NP_001034612.1:p.Leu110Pro
ENST00000261007.9:c.329T>C	ENSP00000261007.5:p.Leu110Pro
ENST00000409219.5:c.254T>C	ENSP00000386611.1:p.Leu85Pro
ENST00000409323.1:c.254T>C	ENSP00000386684.1:p.Leu85Pro
ENST00000409542.5:c.234+1675T>C	ENSP00000387026.1:n.234+1675T>C
ENST00000435083.5:c.234+1675T>C	ENSP00000395805.1:n.234+1675T>C
ENST00000636168.2:c.-236T>C	ENSP00000490338.2:n.-236T>C
ENST00000672640.1:c.-236T>C	ENSP00000500507.1:n.-236T>C
XM_017003256.1:c.350T>C	XP_016858745.1:p.Leu117Pro
XM_017003257.1:c.275T>C	XP_016858746.1:p.Leu92Pro