Canonical Allele Identifier: CA7470238

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1743455
• ClinVar RCV Id: RCV002338100
• dbSNP Id: rs769959530
• ExAC: 15:38643716 A / G
• gnomAD v2: 15-38643716-A-G
• gnomAD v3: 15-38351515-A-G
• gnomAD v4: 15-38351515-A-G
• MyVariant Identifiers: chr15:g.38643716A>G (hg19) ; chr15:g.38351515A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351515A>G , CM000677.2:g.38351515A>G	GRCh38
NC_000015.9:g.38643716A>G , CM000677.1:g.38643716A>G	GRCh37
NC_000015.8:g.36431008A>G	NCBI36
NG_008980.1:g.103665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1186A>G MANE Select	ENSP00000299084.4:p.Ser396Gly
ENST00000299084.8:c.1186A>G	ENSP00000299084.4:p.Ser396Gly
NM_152594.2:c.1186A>G	NP_689807.1:p.Ser396Gly
XM_005254202.2:c.1222A>G	XP_005254259.1:p.Ser408Gly
XM_005254203.3:c.964A>G	XP_005254260.1:p.Ser322Gly
XM_011521288.1:c.1123A>G	XP_011519590.1:p.Ser375Gly
XM_011521289.1:c.1123A>G	XP_011519591.1:p.Ser375Gly
XM_011521290.1:c.1123A>G	XP_011519592.1:p.Ser375Gly
XM_005254202.3:c.1222A>G	XP_005254259.1:p.Ser408Gly
XM_011521289.3:c.1123A>G	XP_011519591.1:p.Ser375Gly
NM_152594.3:c.1186A>G MANE Select	NP_689807.1:p.Ser396Gly