Canonical Allele Identifier: CA7469949

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 415718
• ClinVar RCV Id: RCV000466135 ; RCV001260393 ; RCV001813484 ; RCV001637045 ; RCV004022975
• dbSNP Id: rs201692618
• ExAC: 15:38545416 C / A
• gnomAD v2: 15-38545416-C-A
• gnomAD v3: 15-38253215-C-A
• gnomAD v4: 15-38253215-C-A
• MyVariant Identifiers: chr15:g.38545416C>A (hg19) ; chr15:g.38253215C>A (hg38)
• PubMed: PMID:22753041

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253215C>A , CM000677.2:g.38253215C>A	GRCh38
NC_000015.9:g.38545416C>A , CM000677.1:g.38545416C>A	GRCh37
NC_000015.8:g.36332708C>A	NCBI36
NG_008980.1:g.5365C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.30C>A MANE Select	ENSP00000299084.4:p.Asn10Lys
ENST00000299084.8:c.30C>A	ENSP00000299084.4:p.Asn10Lys
ENST00000561205.1:n.368C>A
ENST00000561317.1:c.-98C>A	ENSP00000453680.1:n.-98C>A
NM_152594.2:c.30C>A	NP_689807.1:p.Asn10Lys
XM_005254202.2:c.30C>A	XP_005254259.1:p.Asn10Lys
XM_005254203.3:c.-18C>A	XP_005254260.1:n.-18C>A
XM_005254202.3:c.30C>A	XP_005254259.1:p.Asn10Lys
XR_001751484.1:n.87+352G>T
NM_152594.3:c.30C>A MANE Select	NP_689807.1:p.Asn10Lys