Canonical Allele Identifier: CA142274

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 47967
• ClinVar RCV Id: RCV000041240 ; RCV000680360 ; RCV001813368 ; RCV001082112 ; RCV002453336 ; RCV003944953
• dbSNP Id: rs200157475
• ExAC: 15:38545412 A / T
• gnomAD v2: 15-38545412-A-T
• gnomAD v3: 15-38253211-A-T
• gnomAD v4: 15-38253211-A-T
• MyVariant Identifiers: chr15:g.38545412A>T (hg19) ; chr15:g.38253211A>T (hg38)
• PubMed: PMID:22753041

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253211A>T , CM000677.2:g.38253211A>T	GRCh38
NC_000015.9:g.38545412A>T , CM000677.1:g.38545412A>T	GRCh37
NC_000015.8:g.36332704A>T	NCBI36
NG_008980.1:g.5361A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.26A>T MANE Select	ENSP00000299084.4:p.Asp9Val
ENST00000299084.8:c.26A>T	ENSP00000299084.4:p.Asp9Val
ENST00000561205.1:n.364A>T
ENST00000561317.1:c.-102A>T	ENSP00000453680.1:n.-102A>T
NM_152594.2:c.26A>T	NP_689807.1:p.Asp9Val
XM_005254202.2:c.26A>T	XP_005254259.1:p.Asp9Val
XM_005254203.3:c.-22A>T	XP_005254260.1:n.-22A>T
XM_005254202.3:c.26A>T	XP_005254259.1:p.Asp9Val
XR_001751484.1:n.87+356T>A
NM_152594.3:c.26A>T MANE Select	NP_689807.1:p.Asp9Val