Canonical Allele Identifier: CA489922850

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1753486
• ClinVar RCV Id: RCV002361729
• dbSNP Id: rs1896208639
• gnomAD v4: 15-38349481-G-A
• MyVariant Identifiers: chr15:g.38641682G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349481G>A , CM000677.2:g.38349481G>A	GRCh38
NC_000015.9:g.38641682G>A , CM000677.1:g.38641682G>A	GRCh37
NC_000015.8:g.36428974G>A	NCBI36
NG_008980.1:g.101631G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.642G>A MANE Select	ENSP00000299084.4:p.Arg214=
ENST00000299084.8:c.642G>A	ENSP00000299084.4:p.Arg214=
NM_152594.2:c.642G>A	NP_689807.1:p.Arg214=
XM_005254202.2:c.678G>A	XP_005254259.1:p.Arg226=
XM_005254203.3:c.420G>A	XP_005254260.1:p.Arg140=
XM_011521288.1:c.579G>A	XP_011519590.1:p.Arg193=
XM_011521289.1:c.579G>A	XP_011519591.1:p.Arg193=
XM_011521290.1:c.579G>A	XP_011519592.1:p.Arg193=
XM_005254202.3:c.678G>A	XP_005254259.1:p.Arg226=
XM_011521289.3:c.579G>A	XP_011519591.1:p.Arg193=
NM_152594.3:c.642G>A MANE Select	NP_689807.1:p.Arg214=