Canonical Allele Identifier: CA490012656

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2454059
• ClinVar RCV Id: RCV003188194
• MyVariant Identifiers: chr15:g.38643817T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351616T>C , CM000677.2:g.38351616T>C	GRCh38
NC_000015.9:g.38643817T>C , CM000677.1:g.38643817T>C	GRCh37
NC_000015.8:g.36431109T>C	NCBI36
NG_008980.1:g.103766T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1287T>C MANE Select	ENSP00000299084.4:p.Cys429=
ENST00000299084.8:c.1287T>C	ENSP00000299084.4:p.Cys429=
NM_152594.2:c.1287T>C	NP_689807.1:p.Cys429=
XM_005254202.2:c.1323T>C	XP_005254259.1:p.Cys441=
XM_005254203.3:c.1065T>C	XP_005254260.1:p.Cys355=
XM_011521288.1:c.1224T>C	XP_011519590.1:p.Cys408=
XM_011521289.1:c.1224T>C	XP_011519591.1:p.Cys408=
XM_011521290.1:c.1224T>C	XP_011519592.1:p.Cys408=
XM_005254202.3:c.1323T>C	XP_005254259.1:p.Cys441=
XM_011521289.3:c.1224T>C	XP_011519591.1:p.Cys408=
NM_152594.3:c.1287T>C MANE Select	NP_689807.1:p.Cys429=