Canonical Allele Identifier: CA2580089329

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1709825
• ClinVar RCV Id: RCV002290167

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351287dup , CM000677.2:g.38351287dup	GRCh38
NC_000015.9:g.38643488dup , CM000677.1:g.38643488dup	GRCh37
NC_000015.8:g.36430780dup	NCBI36
NG_008980.1:g.103437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.958dup MANE Select	ENSP00000299084.4:p.Ile320AsnfsTer2
ENST00000299084.8:c.958dup	ENSP00000299084.4:p.Ile320AsnfsTer2
NM_152594.2:c.958dup	NP_689807.1:p.Ile320AsnfsTer2
XM_005254202.2:c.994dup	XP_005254259.1:p.Ile332AsnfsTer2
XM_005254203.3:c.736dup	XP_005254260.1:p.Ile246AsnfsTer2
XM_011521288.1:c.895dup	XP_011519590.1:p.Ile299AsnfsTer2
XM_011521289.1:c.895dup	XP_011519591.1:p.Ile299AsnfsTer2
XM_011521290.1:c.895dup	XP_011519592.1:p.Ile299AsnfsTer2
XM_005254202.3:c.994dup	XP_005254259.1:p.Ile332AsnfsTer2
XM_011521289.3:c.895dup	XP_011519591.1:p.Ile299AsnfsTer2
NM_152594.3:c.958dup MANE Select	NP_689807.1:p.Ile320AsnfsTer2