Canonical Allele Identifier: CA490012542

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2968803
• ClinVar RCV Id: RCV003829449
• MyVariant Identifiers: chr15:g.38643736G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351535G>A , CM000677.2:g.38351535G>A	GRCh38
NC_000015.9:g.38643736G>A , CM000677.1:g.38643736G>A	GRCh37
NC_000015.8:g.36431028G>A	NCBI36
NG_008980.1:g.103685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1206G>A MANE Select	ENSP00000299084.4:p.Leu402=
ENST00000299084.8:c.1206G>A	ENSP00000299084.4:p.Leu402=
NM_152594.2:c.1206G>A	NP_689807.1:p.Leu402=
XM_005254202.2:c.1242G>A	XP_005254259.1:p.Leu414=
XM_005254203.3:c.984G>A	XP_005254260.1:p.Leu328=
XM_011521288.1:c.1143G>A	XP_011519590.1:p.Leu381=
XM_011521289.1:c.1143G>A	XP_011519591.1:p.Leu381=
XM_011521290.1:c.1143G>A	XP_011519592.1:p.Leu381=
XM_005254202.3:c.1242G>A	XP_005254259.1:p.Leu414=
XM_011521289.3:c.1143G>A	XP_011519591.1:p.Leu381=
NM_152594.3:c.1206G>A MANE Select	NP_689807.1:p.Leu402=