Canonical Allele Identifier: CA7470212

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 315737
• ClinVar RCV Id: RCV000334493 ; RCV000681293 ; RCV001193310 ; RCV001813464 ; RCV002379194
• dbSNP Id: rs369711772
• ExAC: 15:38643493 G / A
• gnomAD v2: 15-38643493-G-A
• gnomAD v3: 15-38351292-G-A
• gnomAD v4: 15-38351292-G-A
• MyVariant Identifiers: chr15:g.38643493G>A (hg19) ; chr15:g.38351292G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351292G>A , CM000677.2:g.38351292G>A	GRCh38
NC_000015.9:g.38643493G>A , CM000677.1:g.38643493G>A	GRCh37
NC_000015.8:g.36430785G>A	NCBI36
NG_008980.1:g.103442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.963G>A MANE Select	ENSP00000299084.4:p.Lys321=
ENST00000299084.8:c.963G>A	ENSP00000299084.4:p.Lys321=
NM_152594.2:c.963G>A	NP_689807.1:p.Lys321=
XM_005254202.2:c.999G>A	XP_005254259.1:p.Lys333=
XM_005254203.3:c.741G>A	XP_005254260.1:p.Lys247=
XM_011521288.1:c.900G>A	XP_011519590.1:p.Lys300=
XM_011521289.1:c.900G>A	XP_011519591.1:p.Lys300=
XM_011521290.1:c.900G>A	XP_011519592.1:p.Lys300=
XM_005254202.3:c.999G>A	XP_005254259.1:p.Lys333=
XM_011521289.3:c.900G>A	XP_011519591.1:p.Lys300=
NM_152594.3:c.963G>A MANE Select	NP_689807.1:p.Lys321=