Canonical Allele Identifier: CA391934076

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2761345
• ClinVar RCV Id: RCV003498620
• MyVariant Identifiers: chr15:g.38591645G>A (hg19) ; chr15:g.38299444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299444G>A , CM000677.2:g.38299444G>A	GRCh38
NC_000015.9:g.38591645G>A , CM000677.1:g.38591645G>A	GRCh37
NC_000015.8:g.36378937G>A	NCBI36
NG_008980.1:g.51594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.104G>A MANE Select	ENSP00000299084.4:p.Gly35Glu
ENST00000299084.8:c.104G>A	ENSP00000299084.4:p.Gly35Glu
ENST00000561205.1:n.442G>A
ENST00000561317.1:c.41G>A	ENSP00000453680.1:p.Gly14Glu
NM_152594.2:c.104G>A	NP_689807.1:p.Gly35Glu
XM_005254202.2:c.140G>A	XP_005254259.1:p.Gly47Glu
XM_005254203.3:c.-15-22797G>A	XP_005254260.1:n.-15-22797G>A
XM_011521288.1:c.41G>A	XP_011519590.1:p.Gly14Glu
XM_011521289.1:c.41G>A	XP_011519591.1:p.Gly14Glu
XM_011521290.1:c.41G>A	XP_011519592.1:p.Gly14Glu
XM_005254202.3:c.140G>A	XP_005254259.1:p.Gly47Glu
XM_011521289.3:c.41G>A	XP_011519591.1:p.Gly14Glu
NM_152594.3:c.104G>A MANE Select	NP_689807.1:p.Gly35Glu