Canonical Allele Identifier: CA391933269

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2721394
• ClinVar RCV Id: RCV003499520
• gnomAD v4: 15-38351127-G-A
• MyVariant Identifiers: chr15:g.38643328G>A (hg19) ; chr15:g.38351127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351127G>A , CM000677.2:g.38351127G>A	GRCh38
NC_000015.9:g.38643328G>A , CM000677.1:g.38643328G>A	GRCh37
NC_000015.8:g.36430620G>A	NCBI36
NG_008980.1:g.103277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.798G>A MANE Select	ENSP00000299084.4:p.Met266Ile
ENST00000299084.8:c.798G>A	ENSP00000299084.4:p.Met266Ile
NM_152594.2:c.798G>A	NP_689807.1:p.Met266Ile
XM_005254202.2:c.834G>A	XP_005254259.1:p.Met278Ile
XM_005254203.3:c.576G>A	XP_005254260.1:p.Met192Ile
XM_011521288.1:c.735G>A	XP_011519590.1:p.Met245Ile
XM_011521289.1:c.735G>A	XP_011519591.1:p.Met245Ile
XM_011521290.1:c.735G>A	XP_011519592.1:p.Met245Ile
XM_005254202.3:c.834G>A	XP_005254259.1:p.Met278Ile
XM_011521289.3:c.735G>A	XP_011519591.1:p.Met245Ile
NM_152594.3:c.798G>A MANE Select	NP_689807.1:p.Met266Ile