Canonical Allele Identifier: CA7470207

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 241992
• ClinVar RCV Id: RCV000434497 ; RCV000588514 ; RCV001079971 ; RCV001813436 ; RCV002374382
• dbSNP Id: rs140644874
• ExAC: 15:38643469 G / A
• gnomAD v2: 15-38643469-G-A
• gnomAD v3: 15-38351268-G-A
• gnomAD v4: 15-38351268-G-A
• MyVariant Identifiers: chr15:g.38643469G>A (hg19) ; chr15:g.38351268G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351268G>A , CM000677.2:g.38351268G>A	GRCh38
NC_000015.9:g.38643469G>A , CM000677.1:g.38643469G>A	GRCh37
NC_000015.8:g.36430761G>A	NCBI36
NG_008980.1:g.103418G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.939G>A MANE Select	ENSP00000299084.4:p.Thr313=
ENST00000299084.8:c.939G>A	ENSP00000299084.4:p.Thr313=
NM_152594.2:c.939G>A	NP_689807.1:p.Thr313=
XM_005254202.2:c.975G>A	XP_005254259.1:p.Thr325=
XM_005254203.3:c.717G>A	XP_005254260.1:p.Thr239=
XM_011521288.1:c.876G>A	XP_011519590.1:p.Thr292=
XM_011521289.1:c.876G>A	XP_011519591.1:p.Thr292=
XM_011521290.1:c.876G>A	XP_011519592.1:p.Thr292=
XM_005254202.3:c.975G>A	XP_005254259.1:p.Thr325=
XM_011521289.3:c.876G>A	XP_011519591.1:p.Thr292=
NM_152594.3:c.939G>A MANE Select	NP_689807.1:p.Thr313=