Canonical Allele Identifier: CA395947928

Gene: SLC6A2

Linked Data

• gnomAD v4: 16-55699653-T-A
• MyVariant Identifiers: chr16:g.55733565T>A (hg19) ; chr16:g.55699653T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55699653T>A , CM000678.2:g.55699653T>A	GRCh38
NC_000016.9:g.55733565T>A , CM000678.1:g.55733565T>A	GRCh37
NC_000016.8:g.54291066T>A	NCBI36
NG_016969.1:g.49024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219833.13:c.1589T>A	ENSP00000219833.8:p.Leu530Gln
ENST00000568943.6:c.1589T>A MANE Select	ENSP00000457473.1:p.Leu530Gln
ENST00000574918.2:c.1454T>A	ENSP00000460214.2:p.Leu485Gln
ENST00000682050.1:c.*288T>A	ENSP00000508367.1:n.*288T>A
ENST00000219833.12:c.1589T>A	ENSP00000219833.8:p.Leu530Gln
ENST00000379906.6:c.1589T>A	ENSP00000369237.2:p.Leu530Gln
ENST00000414754.7:c.1589T>A	ENSP00000394956.3:p.Leu530Gln
ENST00000561820.5:c.1589T>A	ENSP00000454439.1:p.Leu530Gln
ENST00000566163.5:c.1454T>A	ENSP00000456210.1:p.Leu485Gln
ENST00000567238.1:c.1274T>A	ENSP00000457375.1:p.Leu425Gln
ENST00000568943.5:c.1589T>A	ENSP00000457473.1:p.Leu530Gln
NM_001043.3:c.1589T>A	NP_001034.1:p.Leu530Gln
NM_001172501.1:c.1589T>A	NP_001165972.1:p.Leu530Gln
NM_001172502.1:c.1274T>A	NP_001165973.1:p.Leu425Gln
NM_001172504.1:c.1589T>A	NP_001165975.1:p.Leu530Gln
XM_006721263.2:c.1589T>A	XP_006721326.1:p.Leu530Gln
XM_011523295.1:c.1589T>A	XP_011521597.1:p.Leu530Gln
XM_011523296.1:c.1454T>A	XP_011521598.1:p.Leu485Gln
XM_011523297.1:c.1454T>A	XP_011521599.1:p.Leu485Gln
XM_011523299.1:c.866T>A	XP_011521601.1:p.Leu289Gln
XM_011523300.1:c.866T>A	XP_011521602.1:p.Leu289Gln
XR_933403.1:n.2107-486T>A
XM_011523295.2:c.1589T>A	XP_011521597.1:p.Leu530Gln
XM_011523296.2:c.1454T>A	XP_011521598.1:p.Leu485Gln
XM_011523297.3:c.1454T>A	XP_011521599.1:p.Leu485Gln
XM_011523299.2:c.866T>A	XP_011521601.1:p.Leu289Gln
XM_011523300.2:c.866T>A	XP_011521602.1:p.Leu289Gln
XR_933403.3:n.1783-486T>A
NM_001172501.2:c.1589T>A	NP_001165972.1:p.Leu530Gln
NM_001172501.3:c.1589T>A MANE Select	NP_001165972.1:p.Leu530Gln