Canonical Allele Identifier: CA391934767

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 981544
• ClinVar RCV Id: RCV001261040
• MyVariant Identifiers: chr15:g.38643815T>C (hg19) ; chr15:g.38351614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351614T>C , CM000677.2:g.38351614T>C	GRCh38
NC_000015.9:g.38643815T>C , CM000677.1:g.38643815T>C	GRCh37
NC_000015.8:g.36431107T>C	NCBI36
NG_008980.1:g.103764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1285T>C MANE Select	ENSP00000299084.4:p.Cys429Arg
ENST00000299084.8:c.1285T>C	ENSP00000299084.4:p.Cys429Arg
NM_152594.2:c.1285T>C	NP_689807.1:p.Cys429Arg
XM_005254202.2:c.1321T>C	XP_005254259.1:p.Cys441Arg
XM_005254203.3:c.1063T>C	XP_005254260.1:p.Cys355Arg
XM_011521288.1:c.1222T>C	XP_011519590.1:p.Cys408Arg
XM_011521289.1:c.1222T>C	XP_011519591.1:p.Cys408Arg
XM_011521290.1:c.1222T>C	XP_011519592.1:p.Cys408Arg
XM_005254202.3:c.1321T>C	XP_005254259.1:p.Cys441Arg
XM_011521289.3:c.1222T>C	XP_011519591.1:p.Cys408Arg
NM_152594.3:c.1285T>C MANE Select	NP_689807.1:p.Cys429Arg