Canonical Allele Identifier: CA7470237

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 390623
• ClinVar RCV Id: RCV000434999 ; RCV001402260 ; RCV002328990 ; RCV004526673
• dbSNP Id: rs755223172
• ExAC: 15:38643706 G / A
• gnomAD v2: 15-38643706-G-A
• gnomAD v3: 15-38351505-G-A
• gnomAD v4: 15-38351505-G-A
• MyVariant Identifiers: chr15:g.38643706G>A (hg19) ; chr15:g.38351505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351505G>A , CM000677.2:g.38351505G>A	GRCh38
NC_000015.9:g.38643706G>A , CM000677.1:g.38643706G>A	GRCh37
NC_000015.8:g.36430998G>A	NCBI36
NG_008980.1:g.103655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1176G>A MANE Select	ENSP00000299084.4:p.Ser392=
ENST00000299084.8:c.1176G>A	ENSP00000299084.4:p.Ser392=
NM_152594.2:c.1176G>A	NP_689807.1:p.Ser392=
XM_005254202.2:c.1212G>A	XP_005254259.1:p.Ser404=
XM_005254203.3:c.954G>A	XP_005254260.1:p.Ser318=
XM_011521288.1:c.1113G>A	XP_011519590.1:p.Ser371=
XM_011521289.1:c.1113G>A	XP_011519591.1:p.Ser371=
XM_011521290.1:c.1113G>A	XP_011519592.1:p.Ser371=
XM_005254202.3:c.1212G>A	XP_005254259.1:p.Ser404=
XM_011521289.3:c.1113G>A	XP_011519591.1:p.Ser371=
NM_152594.3:c.1176G>A MANE Select	NP_689807.1:p.Ser392=