Canonical Allele Identifier: CA391931800

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 965391
• ClinVar RCV Id: RCV001239829 ; RCV003166494
• dbSNP Id: rs775693385
• gnomAD v3: 15-38253191-C-A
• gnomAD v4: 15-38253191-C-A
• MyVariant Identifiers: chr15:g.38545392C>A (hg19) ; chr15:g.38253191C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253191C>A , CM000677.2:g.38253191C>A	GRCh38
NC_000015.9:g.38545392C>A , CM000677.1:g.38545392C>A	GRCh37
NC_000015.8:g.36332684C>A	NCBI36
NG_008980.1:g.5341C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.6C>A MANE Select	ENSP00000299084.4:p.Ser2Arg
ENST00000299084.8:c.6C>A	ENSP00000299084.4:p.Ser2Arg
ENST00000561205.1:n.344C>A
ENST00000561317.1:c.-122C>A	ENSP00000453680.1:n.-122C>A
NM_152594.2:c.6C>A	NP_689807.1:p.Ser2Arg
XM_005254202.2:c.6C>A	XP_005254259.1:p.Ser2Arg
XM_005254203.3:c.-42C>A	XP_005254260.1:n.-42C>A
XM_005254202.3:c.6C>A	XP_005254259.1:p.Ser2Arg
XR_001751484.1:n.87+376G>T
NM_152594.3:c.6C>A MANE Select	NP_689807.1:p.Ser2Arg