Canonical Allele Identifier: CA269287897

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1400358
• ClinVar RCV Id: RCV001911292
• dbSNP Id: rs968982670
• gnomAD v2: 15-38591597-C-G
• gnomAD v4: 15-38299396-C-G
• MyVariant Identifiers: chr15:g.38591597C>G (hg19) ; chr15:g.38299396C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299396C>G , CM000677.2:g.38299396C>G	GRCh38
NC_000015.9:g.38591597C>G , CM000677.1:g.38591597C>G	GRCh37
NC_000015.8:g.36378889C>G	NCBI36
NG_008980.1:g.51546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.56C>G MANE Select	ENSP00000299084.4:p.Ala19Gly
ENST00000299084.8:c.56C>G	ENSP00000299084.4:p.Ala19Gly
ENST00000561205.1:n.394C>G
ENST00000561317.1:c.-8C>G	ENSP00000453680.1:n.-8C>G
NM_152594.2:c.56C>G	NP_689807.1:p.Ala19Gly
XM_005254202.2:c.92C>G	XP_005254259.1:p.Ala31Gly
XM_005254203.3:c.-15-22845C>G	XP_005254260.1:n.-15-22845C>G
XM_011521288.1:c.-8C>G	XP_011519590.1:n.-8C>G
XM_011521289.1:c.-8C>G	XP_011519591.1:n.-8C>G
XM_011521290.1:c.-8C>G	XP_011519592.1:n.-8C>G
XM_005254202.3:c.92C>G	XP_005254259.1:p.Ala31Gly
XM_011521289.3:c.-8C>G	XP_011519591.1:n.-8C>G
NM_152594.3:c.56C>G MANE Select	NP_689807.1:p.Ala19Gly