Canonical Allele Identifier: CA391933454

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2587854
• ClinVar RCV Id: RCV003350813 ; RCV003497993
• dbSNP Id: rs1888476201
• gnomAD v4: 15-38351206-C-G
• MyVariant Identifiers: chr15:g.38643407C>G (hg19) ; chr15:g.38351206C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351206C>G , CM000677.2:g.38351206C>G	GRCh38
NC_000015.9:g.38643407C>G , CM000677.1:g.38643407C>G	GRCh37
NC_000015.8:g.36430699C>G	NCBI36
NG_008980.1:g.103356C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.877C>G MANE Select	ENSP00000299084.4:p.Leu293Val
ENST00000299084.8:c.877C>G	ENSP00000299084.4:p.Leu293Val
NM_152594.2:c.877C>G	NP_689807.1:p.Leu293Val
XM_005254202.2:c.913C>G	XP_005254259.1:p.Leu305Val
XM_005254203.3:c.655C>G	XP_005254260.1:p.Leu219Val
XM_011521288.1:c.814C>G	XP_011519590.1:p.Leu272Val
XM_011521289.1:c.814C>G	XP_011519591.1:p.Leu272Val
XM_011521290.1:c.814C>G	XP_011519592.1:p.Leu272Val
XM_005254202.3:c.913C>G	XP_005254259.1:p.Leu305Val
XM_011521289.3:c.814C>G	XP_011519591.1:p.Leu272Val
NM_152594.3:c.877C>G MANE Select	NP_689807.1:p.Leu293Val