Canonical Allele Identifier: CA1273904

Gene: STX6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180976605G>C , CM000663.2:g.180976605G>C	GRCh38
NC_000001.10:g.180945741G>C , CM000663.1:g.180945741G>C	GRCh37
NC_000001.9:g.179212364G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005819.6:c.733C>G MANE Select	NP_005810.1:p.Leu245Val
ENST00000258301.6:c.733C>G MANE Select	ENSP00000258301.5:p.Leu245Val
NM_001286210.1:c.430C>G	NP_001273139.1:p.Leu144Val
NM_001286210.2:c.430C>G	NP_001273139.1:p.Leu144Val
NM_005819.5:c.733C>G	NP_005810.1:p.Leu245Val
ENST00000258301.5:c.733C>G	ENSP00000258301.5:p.Leu245Val
ENST00000469135.1:n.1276C>G
ENST00000542060.5:c.430C>G	ENSP00000440188.1:p.Leu144Val
XM_011509058.1:c.691+8072C>G	XP_011507360.1:n.691+8072C>G
XM_011509059.1:c.388+8072C>G	XP_011507361.1:n.388+8072C>G
XM_017000007.1:c.430C>G	XP_016855496.1:p.Leu144Val