Canonical Allele Identifier: CA7470260

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1046000
• ClinVar RCV Id: RCV001350496
• dbSNP Id: rs779454951
• ExAC: 15:38643828 G / A
• gnomAD v2: 15-38643828-G-A
• gnomAD v3: 15-38351627-G-A
• gnomAD v4: 15-38351627-G-A
• MyVariant Identifiers: chr15:g.38643828G>A (hg19) ; chr15:g.38351627G>A (hg38)
• PubMed: PMID:19920235

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351627G>A , CM000677.2:g.38351627G>A	GRCh38
NC_000015.9:g.38643828G>A , CM000677.1:g.38643828G>A	GRCh37
NC_000015.8:g.36431120G>A	NCBI36
NG_008980.1:g.103777G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1298G>A MANE Select	ENSP00000299084.4:p.Cys433Tyr
ENST00000299084.8:c.1298G>A	ENSP00000299084.4:p.Cys433Tyr
NM_152594.2:c.1298G>A	NP_689807.1:p.Cys433Tyr
XM_005254202.2:c.1334G>A	XP_005254259.1:p.Cys445Tyr
XM_005254203.3:c.1076G>A	XP_005254260.1:p.Cys359Tyr
XM_011521288.1:c.1235G>A	XP_011519590.1:p.Cys412Tyr
XM_011521289.1:c.1235G>A	XP_011519591.1:p.Cys412Tyr
XM_011521290.1:c.1235G>A	XP_011519592.1:p.Cys412Tyr
XM_005254202.3:c.1334G>A	XP_005254259.1:p.Cys445Tyr
XM_011521289.3:c.1235G>A	XP_011519591.1:p.Cys412Tyr
NM_152594.3:c.1298G>A MANE Select	NP_689807.1:p.Cys433Tyr