Canonical Allele Identifier: CA2627714523

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38253287-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253287A>C , CM000677.2:g.38253287A>C	GRCh38
NC_000015.9:g.38545488A>C , CM000677.1:g.38545488A>C	GRCh37
NC_000015.8:g.36332780A>C	NCBI36
NG_008980.1:g.5437A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.32+70A>C MANE Select	ENSP00000299084.4:n.32+70A>C
ENST00000299084.8:c.32+70A>C	ENSP00000299084.4:n.32+70A>C
ENST00000561205.1:n.370+70A>C
ENST00000561317.1:c.-96+70A>C	ENSP00000453680.1:n.-96+70A>C
NM_152594.2:c.32+70A>C	NP_689807.1:n.32+70A>C
XM_005254202.2:c.32+70A>C	XP_005254259.1:n.32+70A>C
XM_005254203.3:c.-16+70A>C	XP_005254260.1:n.-16+70A>C
XM_005254202.3:c.32+70A>C	XP_005254259.1:n.32+70A>C
XR_001751484.1:n.87+280T>G
NM_152594.3:c.32+70A>C MANE Select	NP_689807.1:n.32+70A>C