Canonical Allele Identifier: CA391931810

Gene: SPRED1

Linked Data

• dbSNP Id: rs1894017718
• gnomAD v4: 15-38253195-G-A
• MyVariant Identifiers: chr15:g.38545396G>A (hg19) ; chr15:g.38253195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253195G>A , CM000677.2:g.38253195G>A	GRCh38
NC_000015.9:g.38545396G>A , CM000677.1:g.38545396G>A	GRCh37
NC_000015.8:g.36332688G>A	NCBI36
NG_008980.1:g.5345G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.10G>A MANE Select	ENSP00000299084.4:p.Glu4Lys
ENST00000299084.8:c.10G>A	ENSP00000299084.4:p.Glu4Lys
ENST00000561205.1:n.348G>A
ENST00000561317.1:c.-118G>A	ENSP00000453680.1:n.-118G>A
NM_152594.2:c.10G>A	NP_689807.1:p.Glu4Lys
XM_005254202.2:c.10G>A	XP_005254259.1:p.Glu4Lys
XM_005254203.3:c.-38G>A	XP_005254260.1:n.-38G>A
XM_005254202.3:c.10G>A	XP_005254259.1:p.Glu4Lys
XR_001751484.1:n.87+372C>T
NM_152594.3:c.10G>A MANE Select	NP_689807.1:p.Glu4Lys