Canonical Allele Identifier: CA269293439

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2436317
• ClinVar RCV Id: RCV003138654
• dbSNP Id: rs201837340
• gnomAD v2: 15-38643215-G-A
• gnomAD v3: 15-38351014-G-A
• gnomAD v4: 15-38351014-G-A
• MyVariant Identifiers: chr15:g.38643215G>A (hg19) ; chr15:g.38351014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351014G>A , CM000677.2:g.38351014G>A	GRCh38
NC_000015.9:g.38643215G>A , CM000677.1:g.38643215G>A	GRCh37
NC_000015.8:g.36430507G>A	NCBI36
NG_008980.1:g.103164G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.685G>A MANE Select	ENSP00000299084.4:p.Val229Ile
ENST00000299084.8:c.685G>A	ENSP00000299084.4:p.Val229Ile
NM_152594.2:c.685G>A	NP_689807.1:p.Val229Ile
XM_005254202.2:c.721G>A	XP_005254259.1:p.Val241Ile
XM_005254203.3:c.463G>A	XP_005254260.1:p.Val155Ile
XM_011521288.1:c.622G>A	XP_011519590.1:p.Val208Ile
XM_011521289.1:c.622G>A	XP_011519591.1:p.Val208Ile
XM_011521290.1:c.622G>A	XP_011519592.1:p.Val208Ile
XM_005254202.3:c.721G>A	XP_005254259.1:p.Val241Ile
XM_011521289.3:c.622G>A	XP_011519591.1:p.Val208Ile
NM_152594.3:c.685G>A MANE Select	NP_689807.1:p.Val229Ile