Canonical Allele Identifier: CA367836275

Gene: STX1A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73705197A>C , CM000669.2:g.73705197A>C	GRCh38
NC_000007.13:g.73119527A>C , CM000669.1:g.73119527A>C	GRCh37
NC_000007.12:g.72757463A>C	NCBI36
NG_013360.1:g.19491T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004603.4:c.236T>G MANE Select	NP_004594.1:p.Met79Arg
ENST00000222812.8:c.236T>G MANE Select	ENSP00000222812.3:p.Met79Arg
NM_001165903.1:c.236T>G	NP_001159375.1:p.Met79Arg
NM_001165903.2:c.236T>G	NP_001159375.1:p.Met79Arg
NM_004603.3:c.236T>G	NP_004594.1:p.Met79Arg
ENST00000222812.7:c.236T>G	ENSP00000222812.3:p.Met79Arg
ENST00000395154.7:c.236T>G	ENSP00000378583.3:p.Met79Arg
ENST00000395155.3:c.236T>G	ENSP00000378584.3:p.Met79Arg
ENST00000395156.7:c.236T>G	ENSP00000378585.3:p.Met79Arg
ENST00000462135.1:n.277T>G
ENST00000470878.5:n.385T>G
ENST00000494245.1:n.269T>G
ENST00000496216.5:n.145T>G
XM_011516541.1:c.149T>G	XP_011514843.1:p.Met50Arg
XM_017012567.2:c.236T>G	XP_016868056.1:p.Met79Arg
XR_242263.1:n.307T>G
XR_242263.2:n.278T>G
XR_927527.1:n.307T>G
XR_927527.2:n.278T>G
XR_927528.1:n.360T>G