Canonical Allele Identifier: CA658824653

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 547792
• ClinVar RCV Id: RCV000660294
• dbSNP Id: rs1555392750
• MyVariant Identifiers: chr15:g.38643410_38643411dup (hg19) ; chr15:g.38351209_38351210dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351209_38351210dup , CM000677.2:g.38351209_38351210dup	GRCh38
NC_000015.9:g.38643410_38643411dup , CM000677.1:g.38643410_38643411dup	GRCh37
NC_000015.8:g.36430702_36430703dup	NCBI36
NG_008980.1:g.103359_103360dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.880_881dup MANE Select	ENSP00000299084.4:p.Ser295ThrfsTer9
ENST00000299084.8:c.880_881dup	ENSP00000299084.4:p.Ser295ThrfsTer9
NM_152594.2:c.880_881dup	NP_689807.1:p.Ser295ThrfsTer9
XM_005254202.2:c.916_917dup	XP_005254259.1:p.Ser307ThrfsTer9
XM_005254203.3:c.658_659dup	XP_005254260.1:p.Ser221ThrfsTer9
XM_011521288.1:c.817_818dup	XP_011519590.1:p.Ser274ThrfsTer9
XM_011521289.1:c.817_818dup	XP_011519591.1:p.Ser274ThrfsTer9
XM_011521290.1:c.817_818dup	XP_011519592.1:p.Ser274ThrfsTer9
XM_005254202.3:c.916_917dup	XP_005254259.1:p.Ser307ThrfsTer9
XM_011521289.3:c.817_818dup	XP_011519591.1:p.Ser274ThrfsTer9
NM_152594.3:c.880_881dup MANE Select	NP_689807.1:p.Ser295ThrfsTer9