Canonical Allele Identifier: CA7710450

Gene: SLC28A1

Linked Data

• ClinVar Variation Id: 3059692
• ClinVar RCV Id: RCV003974663
• dbSNP Id: rs2290272
• ExAC: 15:85447431 G / A
• gnomAD v2: 15-85447431-G-A
• gnomAD v3: 15-84904200-G-A
• gnomAD v4: 15-84904200-G-A
• MyVariant Identifiers: chr15:g.85447431G>A (hg19) ; chr15:g.84904200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84904200G>A , CM000677.2:g.84904200G>A	GRCh38
NC_000015.9:g.85447431G>A , CM000677.1:g.85447431G>A	GRCh37
NC_000015.8:g.83248435G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000394573.6:c.565G>A MANE Select	ENSP00000378074.1:p.Val189Ile
ENST00000286749.3:c.565G>A	ENSP00000286749.3:p.Val189Ile
ENST00000394573.5:c.565G>A	ENSP00000378074.1:p.Val189Ile
ENST00000538177.5:c.565G>A	ENSP00000443752.1:p.Val189Ile
NM_001287761.1:c.565G>A	NP_001274690.1:p.Val189Ile
NM_001287762.1:c.565G>A	NP_001274691.1:p.Val189Ile
NM_004213.4:c.565G>A	NP_004204.3:p.Val189Ile
XM_011522203.1:c.565G>A	XP_011520505.1:p.Val189Ile
XM_011522204.1:c.565G>A	XP_011520506.1:p.Val189Ile
XM_011522205.1:c.565G>A	XP_011520507.1:p.Val189Ile
XM_011522206.1:c.565G>A	XP_011520508.1:p.Val189Ile
XM_011522207.1:c.565G>A	XP_011520509.1:p.Val189Ile
XM_011522208.1:c.538G>A	XP_011520510.1:p.Val180Ile
XM_011522209.1:c.565G>A	XP_011520511.1:p.Val189Ile
XM_011522210.1:c.565G>A	XP_011520512.1:p.Val189Ile
XM_011522211.1:c.331G>A	XP_011520513.1:p.Val111Ile
XM_011522212.1:c.565G>A	XP_011520514.1:p.Val189Ile
XM_011522213.1:c.565G>A	XP_011520515.1:p.Val189Ile
XM_011522214.1:c.565G>A	XP_011520516.1:p.Val189Ile
XM_011522215.1:c.565G>A	XP_011520517.1:p.Val189Ile
XM_011522216.1:c.331G>A	XP_011520518.1:p.Val111Ile
XM_011522217.1:c.565G>A	XP_011520519.1:p.Val189Ile
XM_011522218.1:c.565G>A	XP_011520520.1:p.Val189Ile
XR_931944.1:n.771G>A
XR_931945.1:n.771G>A
NM_001321721.1:c.565G>A	NP_001308650.1:p.Val189Ile
NM_001321722.1:c.565G>A	NP_001308651.1:p.Val189Ile
XM_011522203.2:c.565G>A	XP_011520505.1:p.Val189Ile
XM_011522204.3:c.565G>A	XP_011520506.1:p.Val189Ile
XM_011522205.3:c.565G>A	XP_011520507.1:p.Val189Ile
XM_011522206.3:c.565G>A	XP_011520508.1:p.Val189Ile
XM_011522208.3:c.538G>A	XP_011520510.1:p.Val180Ile
XM_011522209.2:c.565G>A	XP_011520511.1:p.Val189Ile
XM_011522210.2:c.565G>A	XP_011520512.1:p.Val189Ile
XM_011522211.3:c.331G>A	XP_011520513.1:p.Val111Ile
XM_011522214.2:c.565G>A	XP_011520516.1:p.Val189Ile
XM_011522215.2:c.565G>A	XP_011520517.1:p.Val189Ile
XM_011522216.2:c.331G>A	XP_011520518.1:p.Val111Ile
XM_011522218.2:c.565G>A	XP_011520520.1:p.Val189Ile
XM_017022723.1:c.565G>A	XP_016878212.1:p.Val189Ile
XM_024450099.1:c.565G>A	XP_024305867.1:p.Val189Ile
XM_024450100.1:c.565G>A	XP_024305868.1:p.Val189Ile
XM_024450101.1:c.565G>A	XP_024305869.1:p.Val189Ile
XM_024450102.1:c.-583G>A	XP_024305870.1:n.-583G>A
XR_002957690.1:n.771G>A
XR_931944.2:n.771G>A
XR_931945.2:n.771G>A
NM_004213.5:c.565G>A MANE Select	NP_004204.3:p.Val189Ile
NM_001287762.2:c.565G>A	NP_001274691.1:p.Val189Ile
NM_001321721.2:c.565G>A	NP_001308650.1:p.Val189Ile
NM_001321722.2:c.565G>A	NP_001308651.1:p.Val189Ile
NM_001287761.2:c.565G>A	NP_001274690.1:p.Val189Ile