Canonical Allele Identifier: CA490012527

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1099293
• ClinVar RCV Id: RCV001421514
• dbSNP Id: rs2141016629
• MyVariant Identifiers: chr15:g.38643724C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351523C>T , CM000677.2:g.38351523C>T	GRCh38
NC_000015.9:g.38643724C>T , CM000677.1:g.38643724C>T	GRCh37
NC_000015.8:g.36431016C>T	NCBI36
NG_008980.1:g.103673C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1194C>T MANE Select	ENSP00000299084.4:p.Asp398=
ENST00000299084.8:c.1194C>T	ENSP00000299084.4:p.Asp398=
NM_152594.2:c.1194C>T	NP_689807.1:p.Asp398=
XM_005254202.2:c.1230C>T	XP_005254259.1:p.Asp410=
XM_005254203.3:c.972C>T	XP_005254260.1:p.Asp324=
XM_011521288.1:c.1131C>T	XP_011519590.1:p.Asp377=
XM_011521289.1:c.1131C>T	XP_011519591.1:p.Asp377=
XM_011521290.1:c.1131C>T	XP_011519592.1:p.Asp377=
XM_005254202.3:c.1230C>T	XP_005254259.1:p.Asp410=
XM_011521289.3:c.1131C>T	XP_011519591.1:p.Asp377=
NM_152594.3:c.1194C>T MANE Select	NP_689807.1:p.Asp398=