Canonical Allele Identifier: CA269293443

Gene: SPRED1

Linked Data

• dbSNP Id: rs913339445
• gnomAD v4: 15-38351146-A-G
• MyVariant Identifiers: chr15:g.38643347A>G (hg19) ; chr15:g.38351146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351146A>G , CM000677.2:g.38351146A>G	GRCh38
NC_000015.9:g.38643347A>G , CM000677.1:g.38643347A>G	GRCh37
NC_000015.8:g.36430639A>G	NCBI36
NG_008980.1:g.103296A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.817A>G MANE Select	ENSP00000299084.4:p.Arg273Gly
ENST00000299084.8:c.817A>G	ENSP00000299084.4:p.Arg273Gly
NM_152594.2:c.817A>G	NP_689807.1:p.Arg273Gly
XM_005254202.2:c.853A>G	XP_005254259.1:p.Arg285Gly
XM_005254203.3:c.595A>G	XP_005254260.1:p.Arg199Gly
XM_011521288.1:c.754A>G	XP_011519590.1:p.Arg252Gly
XM_011521289.1:c.754A>G	XP_011519591.1:p.Arg252Gly
XM_011521290.1:c.754A>G	XP_011519592.1:p.Arg252Gly
XM_005254202.3:c.853A>G	XP_005254259.1:p.Arg285Gly
XM_011521289.3:c.754A>G	XP_011519591.1:p.Arg252Gly
NM_152594.3:c.817A>G MANE Select	NP_689807.1:p.Arg273Gly