Canonical Allele Identifier: CA142270

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 47965
• ClinVar RCV Id: RCV000041238 ; RCV000586558 ; RCV001086208 ; RCV001813367 ; RCV002399395
• dbSNP Id: rs147204964
• ExAC: 15:38591665 G / A
• gnomAD v2: 15-38591665-G-A
• gnomAD v3: 15-38299464-G-A
• gnomAD v4: 15-38299464-G-A
• COSMIC: COSM1235538
• MyVariant Identifiers: chr15:g.38591665G>A (hg19) ; chr15:g.38299464G>A (hg38)
• PubMed: PMID:21548021 ; PMID:22753041 ; PMID:24469042 ; PMID:26635368

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299464G>A , CM000677.2:g.38299464G>A	GRCh38
NC_000015.9:g.38591665G>A , CM000677.1:g.38591665G>A	GRCh37
NC_000015.8:g.36378957G>A	NCBI36
NG_008980.1:g.51614G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.124G>A MANE Select	ENSP00000299084.4:p.Val42Ile
ENST00000299084.8:c.124G>A	ENSP00000299084.4:p.Val42Ile
ENST00000561205.1:n.462G>A
ENST00000561317.1:c.61G>A	ENSP00000453680.1:p.Val21Ile
NM_152594.2:c.124G>A	NP_689807.1:p.Val42Ile
XM_005254202.2:c.160G>A	XP_005254259.1:p.Val54Ile
XM_005254203.3:c.-15-22777G>A	XP_005254260.1:n.-15-22777G>A
XM_011521288.1:c.61G>A	XP_011519590.1:p.Val21Ile
XM_011521289.1:c.61G>A	XP_011519591.1:p.Val21Ile
XM_011521290.1:c.61G>A	XP_011519592.1:p.Val21Ile
XM_005254202.3:c.160G>A	XP_005254259.1:p.Val54Ile
XM_011521289.3:c.61G>A	XP_011519591.1:p.Val21Ile
NM_152594.3:c.124G>A MANE Select	NP_689807.1:p.Val42Ile