Canonical Allele Identifier: CA7470183

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1094718
• ClinVar RCV Id: RCV001415329
• dbSNP Id: rs376226762
• ExAC: 15:38643217 C / A
• gnomAD v2: 15-38643217-C-A
• gnomAD v3: 15-38351016-C-A
• gnomAD v4: 15-38351016-C-A
• MyVariant Identifiers: chr15:g.38643217C>A (hg19) ; chr15:g.38351016C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351016C>A , CM000677.2:g.38351016C>A	GRCh38
NC_000015.9:g.38643217C>A , CM000677.1:g.38643217C>A	GRCh37
NC_000015.8:g.36430509C>A	NCBI36
NG_008980.1:g.103166C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.687C>A MANE Select	ENSP00000299084.4:p.Val229=
ENST00000299084.8:c.687C>A	ENSP00000299084.4:p.Val229=
NM_152594.2:c.687C>A	NP_689807.1:p.Val229=
XM_005254202.2:c.723C>A	XP_005254259.1:p.Val241=
XM_005254203.3:c.465C>A	XP_005254260.1:p.Val155=
XM_011521288.1:c.624C>A	XP_011519590.1:p.Val208=
XM_011521289.1:c.624C>A	XP_011519591.1:p.Val208=
XM_011521290.1:c.624C>A	XP_011519592.1:p.Val208=
XM_005254202.3:c.723C>A	XP_005254259.1:p.Val241=
XM_011521289.3:c.624C>A	XP_011519591.1:p.Val208=
NM_152594.3:c.687C>A MANE Select	NP_689807.1:p.Val229=