Canonical Allele Identifier: CA269287921

Gene: SPRED1

Linked Data

• dbSNP Id: rs891924099
• gnomAD v2: 15-38591944-G-A
• gnomAD v3: 15-38299743-G-A
• gnomAD v4: 15-38299743-G-A
• MyVariant Identifiers: chr15:g.38591944G>A (hg19) ; chr15:g.38299743G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299743G>A , CM000677.2:g.38299743G>A	GRCh38
NC_000015.9:g.38591944G>A , CM000677.1:g.38591944G>A	GRCh37
NC_000015.8:g.36379236G>A	NCBI36
NG_008980.1:g.51893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.207+196G>A MANE Select	ENSP00000299084.4:n.207+196G>A
ENST00000299084.8:c.207+196G>A	ENSP00000299084.4:n.207+196G>A
ENST00000561205.1:n.545+196G>A
ENST00000561317.1:c.144+196G>A	ENSP00000453680.1:n.144+196G>A
NM_152594.2:c.207+196G>A	NP_689807.1:n.207+196G>A
XM_005254202.2:c.243+196G>A	XP_005254259.1:n.243+196G>A
XM_005254203.3:c.-15-22498G>A	XP_005254260.1:n.-15-22498G>A
XM_011521288.1:c.144+196G>A	XP_011519590.1:n.144+196G>A
XM_011521289.1:c.144+196G>A	XP_011519591.1:n.144+196G>A
XM_011521290.1:c.144+196G>A	XP_011519592.1:n.144+196G>A
XM_005254202.3:c.243+196G>A	XP_005254259.1:n.243+196G>A
XM_011521289.3:c.144+196G>A	XP_011519591.1:n.144+196G>A
NM_152594.3:c.207+196G>A MANE Select	NP_689807.1:n.207+196G>A