Canonical Allele Identifier: CA391934673

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 848886
• ClinVar RCV Id: RCV001052735
• dbSNP Id: rs1888490204
• gnomAD v4: 15-38351575-T-C
• MyVariant Identifiers: chr15:g.38643776T>C (hg19) ; chr15:g.38351575T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351575T>C , CM000677.2:g.38351575T>C	GRCh38
NC_000015.9:g.38643776T>C , CM000677.1:g.38643776T>C	GRCh37
NC_000015.8:g.36431068T>C	NCBI36
NG_008980.1:g.103725T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1246T>C MANE Select	ENSP00000299084.4:p.Cys416Arg
ENST00000299084.8:c.1246T>C	ENSP00000299084.4:p.Cys416Arg
NM_152594.2:c.1246T>C	NP_689807.1:p.Cys416Arg
XM_005254202.2:c.1282T>C	XP_005254259.1:p.Cys428Arg
XM_005254203.3:c.1024T>C	XP_005254260.1:p.Cys342Arg
XM_011521288.1:c.1183T>C	XP_011519590.1:p.Cys395Arg
XM_011521289.1:c.1183T>C	XP_011519591.1:p.Cys395Arg
XM_011521290.1:c.1183T>C	XP_011519592.1:p.Cys395Arg
XM_005254202.3:c.1282T>C	XP_005254259.1:p.Cys428Arg
XM_011521289.3:c.1183T>C	XP_011519591.1:p.Cys395Arg
NM_152594.3:c.1246T>C MANE Select	NP_689807.1:p.Cys416Arg