Canonical Allele Identifier: CA489922929

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2765471
• ClinVar RCV Id: RCV003498765
• MyVariant Identifiers: chr15:g.38643283A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351082A>T , CM000677.2:g.38351082A>T	GRCh38
NC_000015.9:g.38643283A>T , CM000677.1:g.38643283A>T	GRCh37
NC_000015.8:g.36430575A>T	NCBI36
NG_008980.1:g.103232A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.753A>T MANE Select	ENSP00000299084.4:p.Arg251=
ENST00000299084.8:c.753A>T	ENSP00000299084.4:p.Arg251=
NM_152594.2:c.753A>T	NP_689807.1:p.Arg251=
XM_005254202.2:c.789A>T	XP_005254259.1:p.Arg263=
XM_005254203.3:c.531A>T	XP_005254260.1:p.Arg177=
XM_011521288.1:c.690A>T	XP_011519590.1:p.Arg230=
XM_011521289.1:c.690A>T	XP_011519591.1:p.Arg230=
XM_011521290.1:c.690A>T	XP_011519592.1:p.Arg230=
XM_005254202.3:c.789A>T	XP_005254259.1:p.Arg263=
XM_011521289.3:c.690A>T	XP_011519591.1:p.Arg230=
NM_152594.3:c.753A>T MANE Select	NP_689807.1:p.Arg251=