Canonical Allele Identifier: CA391934170

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1388790
• ClinVar RCV Id: RCV001878054
• dbSNP Id: rs2141016541
• MyVariant Identifiers: chr15:g.38643639T>C (hg19) ; chr15:g.38351438T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351438T>C , CM000677.2:g.38351438T>C	GRCh38
NC_000015.9:g.38643639T>C , CM000677.1:g.38643639T>C	GRCh37
NC_000015.8:g.36430931T>C	NCBI36
NG_008980.1:g.103588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1109T>C MANE Select	ENSP00000299084.4:p.Leu370Pro
ENST00000299084.8:c.1109T>C	ENSP00000299084.4:p.Leu370Pro
NM_152594.2:c.1109T>C	NP_689807.1:p.Leu370Pro
XM_005254202.2:c.1145T>C	XP_005254259.1:p.Leu382Pro
XM_005254203.3:c.887T>C	XP_005254260.1:p.Leu296Pro
XM_011521288.1:c.1046T>C	XP_011519590.1:p.Leu349Pro
XM_011521289.1:c.1046T>C	XP_011519591.1:p.Leu349Pro
XM_011521290.1:c.1046T>C	XP_011519592.1:p.Leu349Pro
XM_005254202.3:c.1145T>C	XP_005254259.1:p.Leu382Pro
XM_011521289.3:c.1046T>C	XP_011519591.1:p.Leu349Pro
NM_152594.3:c.1109T>C MANE Select	NP_689807.1:p.Leu370Pro