Canonical Allele Identifier: CA269293277

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1020173
• ClinVar RCV Id: RCV001319712
• dbSNP Id: rs371274407
• gnomAD v2: 15-38641681-G-A
• gnomAD v3: 15-38349480-G-A
• gnomAD v4: 15-38349480-G-A
• MyVariant Identifiers: chr15:g.38641681G>A (hg19) ; chr15:g.38349480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349480G>A , CM000677.2:g.38349480G>A	GRCh38
NC_000015.9:g.38641681G>A , CM000677.1:g.38641681G>A	GRCh37
NC_000015.8:g.36428973G>A	NCBI36
NG_008980.1:g.101630G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.641G>A MANE Select	ENSP00000299084.4:p.Arg214Gln
ENST00000299084.8:c.641G>A	ENSP00000299084.4:p.Arg214Gln
NM_152594.2:c.641G>A	NP_689807.1:p.Arg214Gln
XM_005254202.2:c.677G>A	XP_005254259.1:p.Arg226Gln
XM_005254203.3:c.419G>A	XP_005254260.1:p.Arg140Gln
XM_011521288.1:c.578G>A	XP_011519590.1:p.Arg193Gln
XM_011521289.1:c.578G>A	XP_011519591.1:p.Arg193Gln
XM_011521290.1:c.578G>A	XP_011519592.1:p.Arg193Gln
XM_005254202.3:c.677G>A	XP_005254259.1:p.Arg226Gln
XM_011521289.3:c.578G>A	XP_011519591.1:p.Arg193Gln
NM_152594.3:c.641G>A MANE Select	NP_689807.1:p.Arg214Gln