Canonical Allele Identifier: CA391931838

Gene: SPRED1

Linked Data

• dbSNP Id: rs1894017994
• gnomAD v4: 15-38253207-T-G
• MyVariant Identifiers: chr15:g.38545408T>G (hg19) ; chr15:g.38253207T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253207T>G , CM000677.2:g.38253207T>G	GRCh38
NC_000015.9:g.38545408T>G , CM000677.1:g.38545408T>G	GRCh37
NC_000015.8:g.36332700T>G	NCBI36
NG_008980.1:g.5357T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.22T>G MANE Select	ENSP00000299084.4:p.Ser8Ala
ENST00000299084.8:c.22T>G	ENSP00000299084.4:p.Ser8Ala
ENST00000561205.1:n.360T>G
ENST00000561317.1:c.-106T>G	ENSP00000453680.1:n.-106T>G
NM_152594.2:c.22T>G	NP_689807.1:p.Ser8Ala
XM_005254202.2:c.22T>G	XP_005254259.1:p.Ser8Ala
XM_005254203.3:c.-26T>G	XP_005254260.1:n.-26T>G
XM_005254202.3:c.22T>G	XP_005254259.1:p.Ser8Ala
XR_001751484.1:n.87+360A>C
NM_152594.3:c.22T>G MANE Select	NP_689807.1:p.Ser8Ala