Canonical Allele Identifier: CA12565999

Gene: STX1A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73718911T>G , CM000669.2:g.73718911T>G	GRCh38
NC_000007.13:g.73133241T>G , CM000669.1:g.73133241T>G	GRCh37
NC_000007.12:g.72771177T>G	NCBI36
NG_013360.1:g.5777A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004603.4:c.30+691A>C MANE Select	NP_004594.1:n.30+691A>C
ENST00000222812.8:c.30+691A>C MANE Select	ENSP00000222812.3:n.30+691A>C
NM_001165903.1:c.30+691A>C	NP_001159375.1:n.30+691A>C
NM_001165903.2:c.30+691A>C	NP_001159375.1:n.30+691A>C
NM_004603.3:c.30+691A>C	NP_004594.1:n.30+691A>C
ENST00000222812.7:c.30+691A>C	ENSP00000222812.3:n.30+691A>C
ENST00000395154.7:c.30+691A>C	ENSP00000378583.3:n.30+691A>C
ENST00000395155.3:c.30+691A>C	ENSP00000378584.3:n.30+691A>C
ENST00000395156.7:c.30+691A>C	ENSP00000378585.3:n.30+691A>C
ENST00000462135.1:n.71+691A>C
ENST00000470878.5:n.25+691A>C
XM_017012567.2:c.30+691A>C	XP_016868056.1:n.30+691A>C
XR_242263.1:n.101+691A>C
XR_242263.2:n.72+691A>C
XR_927527.1:n.101+691A>C
XR_927527.2:n.72+691A>C