Canonical Allele Identifier: CA391933152

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 999996
• ClinVar RCV Id: RCV001296067
• dbSNP Id: rs1888472576
• MyVariant Identifiers: chr15:g.38643277C>G (hg19) ; chr15:g.38351076C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351076C>G , CM000677.2:g.38351076C>G	GRCh38
NC_000015.9:g.38643277C>G , CM000677.1:g.38643277C>G	GRCh37
NC_000015.8:g.36430569C>G	NCBI36
NG_008980.1:g.103226C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.747C>G MANE Select	ENSP00000299084.4:p.Asn249Lys
ENST00000299084.8:c.747C>G	ENSP00000299084.4:p.Asn249Lys
NM_152594.2:c.747C>G	NP_689807.1:p.Asn249Lys
XM_005254202.2:c.783C>G	XP_005254259.1:p.Asn261Lys
XM_005254203.3:c.525C>G	XP_005254260.1:p.Asn175Lys
XM_011521288.1:c.684C>G	XP_011519590.1:p.Asn228Lys
XM_011521289.1:c.684C>G	XP_011519591.1:p.Asn228Lys
XM_011521290.1:c.684C>G	XP_011519592.1:p.Asn228Lys
XM_005254202.3:c.783C>G	XP_005254259.1:p.Asn261Lys
XM_011521289.3:c.684C>G	XP_011519591.1:p.Asn228Lys
NM_152594.3:c.747C>G MANE Select	NP_689807.1:p.Asn249Lys