Canonical Allele Identifier: CA391933402

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1449590
• ClinVar RCV Id: RCV001989707
• dbSNP Id: rs2141016195
• MyVariant Identifiers: chr15:g.38643386G>A (hg19) ; chr15:g.38351185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351185G>A , CM000677.2:g.38351185G>A	GRCh38
NC_000015.9:g.38643386G>A , CM000677.1:g.38643386G>A	GRCh37
NC_000015.8:g.36430678G>A	NCBI36
NG_008980.1:g.103335G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.856G>A MANE Select	ENSP00000299084.4:p.Asp286Asn
ENST00000299084.8:c.856G>A	ENSP00000299084.4:p.Asp286Asn
NM_152594.2:c.856G>A	NP_689807.1:p.Asp286Asn
XM_005254202.2:c.892G>A	XP_005254259.1:p.Asp298Asn
XM_005254203.3:c.634G>A	XP_005254260.1:p.Asp212Asn
XM_011521288.1:c.793G>A	XP_011519590.1:p.Asp265Asn
XM_011521289.1:c.793G>A	XP_011519591.1:p.Asp265Asn
XM_011521290.1:c.793G>A	XP_011519592.1:p.Asp265Asn
XM_005254202.3:c.892G>A	XP_005254259.1:p.Asp298Asn
XM_011521289.3:c.793G>A	XP_011519591.1:p.Asp265Asn
NM_152594.3:c.856G>A MANE Select	NP_689807.1:p.Asp286Asn