Canonical Allele Identifier: CA269293455

Gene: SPRED1

Linked Data

• dbSNP Id: rs756634323
• gnomAD v4: 15-38351314-G-A
• MyVariant Identifiers: chr15:g.38643515G>A (hg19) ; chr15:g.38351314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351314G>A , CM000677.2:g.38351314G>A	GRCh38
NC_000015.9:g.38643515G>A , CM000677.1:g.38643515G>A	GRCh37
NC_000015.8:g.36430807G>A	NCBI36
NG_008980.1:g.103464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.985G>A MANE Select	ENSP00000299084.4:p.Asp329Asn
ENST00000299084.8:c.985G>A	ENSP00000299084.4:p.Asp329Asn
NM_152594.2:c.985G>A	NP_689807.1:p.Asp329Asn
XM_005254202.2:c.1021G>A	XP_005254259.1:p.Asp341Asn
XM_005254203.3:c.763G>A	XP_005254260.1:p.Asp255Asn
XM_011521288.1:c.922G>A	XP_011519590.1:p.Asp308Asn
XM_011521289.1:c.922G>A	XP_011519591.1:p.Asp308Asn
XM_011521290.1:c.922G>A	XP_011519592.1:p.Asp308Asn
XM_005254202.3:c.1021G>A	XP_005254259.1:p.Asp341Asn
XM_011521289.3:c.922G>A	XP_011519591.1:p.Asp308Asn
NM_152594.3:c.985G>A MANE Select	NP_689807.1:p.Asp329Asn