Canonical Allele Identifier: CA2170765861

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1038674
• ClinVar RCV Id: RCV001342013
• dbSNP Id: rs1894018882

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253220A>T , CM000677.2:g.38253220A>T	GRCh38
NC_000015.9:g.38545421A>T , CM000677.1:g.38545421A>T	GRCh37
NC_000015.8:g.36332713A>T	NCBI36
NG_008980.1:g.5370A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.32+3A>T MANE Select	ENSP00000299084.4:n.32+3A>T
ENST00000299084.8:c.32+3A>T	ENSP00000299084.4:n.32+3A>T
ENST00000561205.1:n.370+3A>T
ENST00000561317.1:c.-96+3A>T	ENSP00000453680.1:n.-96+3A>T
NM_152594.2:c.32+3A>T	NP_689807.1:n.32+3A>T
XM_005254202.2:c.32+3A>T	XP_005254259.1:n.32+3A>T
XM_005254203.3:c.-16+3A>T	XP_005254260.1:n.-16+3A>T
XM_005254202.3:c.32+3A>T	XP_005254259.1:n.32+3A>T
XR_001751484.1:n.87+347T>A
NM_152594.3:c.32+3A>T MANE Select	NP_689807.1:n.32+3A>T