Canonical Allele Identifier: CA7470143

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 536689
• ClinVar RCV Id: RCV000645297 ; RCV001813535 ; RCV002360595 ; RCV003953153
• dbSNP Id: rs769630742
• ExAC: 15:38641674 G / A
• gnomAD v2: 15-38641674-G-A
• gnomAD v3: 15-38349473-G-A
• gnomAD v4: 15-38349473-G-A
• COSMIC: COSM4054220
• MyVariant Identifiers: chr15:g.38641674G>A (hg19) ; chr15:g.38349473G>A (hg38)
• PubMed: PMID:21548021

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349473G>A , CM000677.2:g.38349473G>A	GRCh38
NC_000015.9:g.38641674G>A , CM000677.1:g.38641674G>A	GRCh37
NC_000015.8:g.36428966G>A	NCBI36
NG_008980.1:g.101623G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.634G>A MANE Select	ENSP00000299084.4:p.Val212Ile
ENST00000299084.8:c.634G>A	ENSP00000299084.4:p.Val212Ile
NM_152594.2:c.634G>A	NP_689807.1:p.Val212Ile
XM_005254202.2:c.670G>A	XP_005254259.1:p.Val224Ile
XM_005254203.3:c.412G>A	XP_005254260.1:p.Val138Ile
XM_011521288.1:c.571G>A	XP_011519590.1:p.Val191Ile
XM_011521289.1:c.571G>A	XP_011519591.1:p.Val191Ile
XM_011521290.1:c.571G>A	XP_011519592.1:p.Val191Ile
XM_005254202.3:c.670G>A	XP_005254259.1:p.Val224Ile
XM_011521289.3:c.571G>A	XP_011519591.1:p.Val191Ile
NM_152594.3:c.634G>A MANE Select	NP_689807.1:p.Val212Ile