Canonical Allele Identifier: CA391933682

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1037119
• ClinVar RCV Id: RCV001340225
• dbSNP Id: rs1352455265
• gnomAD v2: 15-38643512-G-A
• gnomAD v4: 15-38351311-G-A
• MyVariant Identifiers: chr15:g.38643512G>A (hg19) ; chr15:g.38351311G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351311G>A , CM000677.2:g.38351311G>A	GRCh38
NC_000015.9:g.38643512G>A , CM000677.1:g.38643512G>A	GRCh37
NC_000015.8:g.36430804G>A	NCBI36
NG_008980.1:g.103461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.982G>A MANE Select	ENSP00000299084.4:p.Glu328Lys
ENST00000299084.8:c.982G>A	ENSP00000299084.4:p.Glu328Lys
NM_152594.2:c.982G>A	NP_689807.1:p.Glu328Lys
XM_005254202.2:c.1018G>A	XP_005254259.1:p.Glu340Lys
XM_005254203.3:c.760G>A	XP_005254260.1:p.Glu254Lys
XM_011521288.1:c.919G>A	XP_011519590.1:p.Glu307Lys
XM_011521289.1:c.919G>A	XP_011519591.1:p.Glu307Lys
XM_011521290.1:c.919G>A	XP_011519592.1:p.Glu307Lys
XM_005254202.3:c.1018G>A	XP_005254259.1:p.Glu340Lys
XM_011521289.3:c.919G>A	XP_011519591.1:p.Glu307Lys
NM_152594.3:c.982G>A MANE Select	NP_689807.1:p.Glu328Lys