Canonical Allele Identifier: CA7470210

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1586484
• ClinVar RCV Id: RCV002100433 ; RCV003323984
• dbSNP Id: rs753357510
• ExAC: 15:38643484 A / G
• gnomAD v2: 15-38643484-A-G
• gnomAD v4: 15-38351283-A-G
• MyVariant Identifiers: chr15:g.38643484A>G (hg19) ; chr15:g.38351283A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351283A>G , CM000677.2:g.38351283A>G	GRCh38
NC_000015.9:g.38643484A>G , CM000677.1:g.38643484A>G	GRCh37
NC_000015.8:g.36430776A>G	NCBI36
NG_008980.1:g.103433A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.954A>G MANE Select	ENSP00000299084.4:p.Leu318=
ENST00000299084.8:c.954A>G	ENSP00000299084.4:p.Leu318=
NM_152594.2:c.954A>G	NP_689807.1:p.Leu318=
XM_005254202.2:c.990A>G	XP_005254259.1:p.Leu330=
XM_005254203.3:c.732A>G	XP_005254260.1:p.Leu244=
XM_011521288.1:c.891A>G	XP_011519590.1:p.Leu297=
XM_011521289.1:c.891A>G	XP_011519591.1:p.Leu297=
XM_011521290.1:c.891A>G	XP_011519592.1:p.Leu297=
XM_005254202.3:c.990A>G	XP_005254259.1:p.Leu330=
XM_011521289.3:c.891A>G	XP_011519591.1:p.Leu297=
NM_152594.3:c.954A>G MANE Select	NP_689807.1:p.Leu318=