Canonical Allele Identifier: CA490012561

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 700705
• ClinVar RCV Id: RCV001441644
• dbSNP Id: rs1595764001
• gnomAD v4: 15-38351544-A-G
• MyVariant Identifiers: chr15:g.38643745A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351544A>G , CM000677.2:g.38351544A>G	GRCh38
NC_000015.9:g.38643745A>G , CM000677.1:g.38643745A>G	GRCh37
NC_000015.8:g.36431037A>G	NCBI36
NG_008980.1:g.103694A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1215A>G MANE Select	ENSP00000299084.4:p.Leu405=
ENST00000299084.8:c.1215A>G	ENSP00000299084.4:p.Leu405=
NM_152594.2:c.1215A>G	NP_689807.1:p.Leu405=
XM_005254202.2:c.1251A>G	XP_005254259.1:p.Leu417=
XM_005254203.3:c.993A>G	XP_005254260.1:p.Leu331=
XM_011521288.1:c.1152A>G	XP_011519590.1:p.Leu384=
XM_011521289.1:c.1152A>G	XP_011519591.1:p.Leu384=
XM_011521290.1:c.1152A>G	XP_011519592.1:p.Leu384=
XM_005254202.3:c.1251A>G	XP_005254259.1:p.Leu417=
XM_011521289.3:c.1152A>G	XP_011519591.1:p.Leu384=
NM_152594.3:c.1215A>G MANE Select	NP_689807.1:p.Leu405=