Canonical Allele Identifier: CA7470219

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 429870
• ClinVar RCV Id: RCV000493530 ; RCV002420259 ; RCV000819475
• dbSNP Id: rs373477920
• ExAC: 15:38643536 G / A
• gnomAD v2: 15-38643536-G-A
• gnomAD v3: 15-38351335-G-A
• gnomAD v4: 15-38351335-G-A
• MyVariant Identifiers: chr15:g.38643536G>A (hg19) ; chr15:g.38351335G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351335G>A , CM000677.2:g.38351335G>A	GRCh38
NC_000015.9:g.38643536G>A , CM000677.1:g.38643536G>A	GRCh37
NC_000015.8:g.36430828G>A	NCBI36
NG_008980.1:g.103485G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1006G>A MANE Select	ENSP00000299084.4:p.Val336Ile
ENST00000299084.8:c.1006G>A	ENSP00000299084.4:p.Val336Ile
NM_152594.2:c.1006G>A	NP_689807.1:p.Val336Ile
XM_005254202.2:c.1042G>A	XP_005254259.1:p.Val348Ile
XM_005254203.3:c.784G>A	XP_005254260.1:p.Val262Ile
XM_011521288.1:c.943G>A	XP_011519590.1:p.Val315Ile
XM_011521289.1:c.943G>A	XP_011519591.1:p.Val315Ile
XM_011521290.1:c.943G>A	XP_011519592.1:p.Val315Ile
XM_005254202.3:c.1042G>A	XP_005254259.1:p.Val348Ile
XM_011521289.3:c.943G>A	XP_011519591.1:p.Val315Ile
NM_152594.3:c.1006G>A MANE Select	NP_689807.1:p.Val336Ile