Canonical Allele Identifier: CA269293279

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1754908
• ClinVar RCV Id: RCV002367070 ; RCV003600436
• dbSNP Id: rs990641041
• gnomAD v3: 15-38349507-T-A
• gnomAD v4: 15-38349507-T-A
• MyVariant Identifiers: chr15:g.38641708T>A (hg19) ; chr15:g.38349507T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349507T>A , CM000677.2:g.38349507T>A	GRCh38
NC_000015.9:g.38641708T>A , CM000677.1:g.38641708T>A	GRCh37
NC_000015.8:g.36429000T>A	NCBI36
NG_008980.1:g.101657T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.668T>A MANE Select	ENSP00000299084.4:p.Leu223Gln
ENST00000299084.8:c.668T>A	ENSP00000299084.4:p.Leu223Gln
NM_152594.2:c.668T>A	NP_689807.1:p.Leu223Gln
XM_005254202.2:c.704T>A	XP_005254259.1:p.Leu235Gln
XM_005254203.3:c.446T>A	XP_005254260.1:p.Leu149Gln
XM_011521288.1:c.605T>A	XP_011519590.1:p.Leu202Gln
XM_011521289.1:c.605T>A	XP_011519591.1:p.Leu202Gln
XM_011521290.1:c.605T>A	XP_011519592.1:p.Leu202Gln
XM_005254202.3:c.704T>A	XP_005254259.1:p.Leu235Gln
XM_011521289.3:c.605T>A	XP_011519591.1:p.Leu202Gln
NM_152594.3:c.668T>A MANE Select	NP_689807.1:p.Leu223Gln