Canonical Allele Identifier: CA7470196

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 386548
• ClinVar RCV Id: RCV000444269 ; RCV001087031 ; RCV001201296 ; RCV001813481 ; RCV002374681 ; RCV003897898
• dbSNP Id: rs535687467
• ExAC: 15:38643409 G / A
• gnomAD v2: 15-38643409-G-A
• gnomAD v3: 15-38351208-G-A
• gnomAD v4: 15-38351208-G-A
• MyVariant Identifiers: chr15:g.38643409G>A (hg19) ; chr15:g.38351208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351208G>A , CM000677.2:g.38351208G>A	GRCh38
NC_000015.9:g.38643409G>A , CM000677.1:g.38643409G>A	GRCh37
NC_000015.8:g.36430701G>A	NCBI36
NG_008980.1:g.103358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.879G>A MANE Select	ENSP00000299084.4:p.Leu293=
ENST00000299084.8:c.879G>A	ENSP00000299084.4:p.Leu293=
NM_152594.2:c.879G>A	NP_689807.1:p.Leu293=
XM_005254202.2:c.915G>A	XP_005254259.1:p.Leu305=
XM_005254203.3:c.657G>A	XP_005254260.1:p.Leu219=
XM_011521288.1:c.816G>A	XP_011519590.1:p.Leu272=
XM_011521289.1:c.816G>A	XP_011519591.1:p.Leu272=
XM_011521290.1:c.816G>A	XP_011519592.1:p.Leu272=
XM_005254202.3:c.915G>A	XP_005254259.1:p.Leu305=
XM_011521289.3:c.816G>A	XP_011519591.1:p.Leu272=
NM_152594.3:c.879G>A MANE Select	NP_689807.1:p.Leu293=