Canonical Allele Identifier: CA391934678

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1334312
• ClinVar RCV Id: RCV001813727
• dbSNP Id: rs2141016711
• MyVariant Identifiers: chr15:g.38643778T>A (hg19) ; chr15:g.38351577T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351577T>A , CM000677.2:g.38351577T>A	GRCh38
NC_000015.9:g.38643778T>A , CM000677.1:g.38643778T>A	GRCh37
NC_000015.8:g.36431070T>A	NCBI36
NG_008980.1:g.103727T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1248T>A MANE Select	ENSP00000299084.4:p.Cys416Ter
ENST00000299084.8:c.1248T>A	ENSP00000299084.4:p.Cys416Ter
NM_152594.2:c.1248T>A	NP_689807.1:p.Cys416Ter
XM_005254202.2:c.1284T>A	XP_005254259.1:p.Cys428Ter
XM_005254203.3:c.1026T>A	XP_005254260.1:p.Cys342Ter
XM_011521288.1:c.1185T>A	XP_011519590.1:p.Cys395Ter
XM_011521289.1:c.1185T>A	XP_011519591.1:p.Cys395Ter
XM_011521290.1:c.1185T>A	XP_011519592.1:p.Cys395Ter
XM_005254202.3:c.1284T>A	XP_005254259.1:p.Cys428Ter
XM_011521289.3:c.1185T>A	XP_011519591.1:p.Cys395Ter
NM_152594.3:c.1248T>A MANE Select	NP_689807.1:p.Cys416Ter