Canonical Allele Identifier: CA142276

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 41371
• ClinVar RCV Id: RCV000034273 ; RCV000041241 ; RCV000588250 ; RCV002433491
• dbSNP Id: rs7182445
• ExAC: 15:38614525 G / A
• gnomAD v2: 15-38614525-G-A
• gnomAD v3: 15-38322324-G-A
• gnomAD v4: 15-38322324-G-A
• MyVariant Identifiers: chr15:g.38614525G>A (hg19) ; chr15:g.38322324G>A (hg38)
• PubMed: PMID:20179001 ; PMID:20945555

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38322324G>A , CM000677.2:g.38322324G>A	GRCh38
NC_000015.9:g.38614525G>A , CM000677.1:g.38614525G>A	GRCh37
NC_000015.8:g.36401817G>A	NCBI36
NG_008980.1:g.74474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.291G>A MANE Select	ENSP00000299084.4:p.Lys97=
ENST00000299084.8:c.291G>A	ENSP00000299084.4:p.Lys97=
ENST00000561205.1:n.629G>A
ENST00000561317.1:c.228G>A	ENSP00000453680.1:p.Lys76=
NM_152594.2:c.291G>A	NP_689807.1:p.Lys97=
XM_005254202.2:c.327G>A	XP_005254259.1:p.Lys109=
XM_005254203.3:c.69G>A	XP_005254260.1:p.Lys23=
XM_011521288.1:c.228G>A	XP_011519590.1:p.Lys76=
XM_011521289.1:c.228G>A	XP_011519591.1:p.Lys76=
XM_011521290.1:c.228G>A	XP_011519592.1:p.Lys76=
XM_005254202.3:c.327G>A	XP_005254259.1:p.Lys109=
XM_011521289.3:c.228G>A	XP_011519591.1:p.Lys76=
NM_152594.3:c.291G>A MANE Select	NP_689807.1:p.Lys97=