Canonical Allele Identifier: CA269293446

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2587855
• ClinVar RCV Id: RCV003361039
• dbSNP Id: rs1043239392
• gnomAD v3: 15-38351158-G-A
• gnomAD v4: 15-38351158-G-A
• MyVariant Identifiers: chr15:g.38643359G>A (hg19) ; chr15:g.38351158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351158G>A , CM000677.2:g.38351158G>A	GRCh38
NC_000015.9:g.38643359G>A , CM000677.1:g.38643359G>A	GRCh37
NC_000015.8:g.36430651G>A	NCBI36
NG_008980.1:g.103308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.829G>A MANE Select	ENSP00000299084.4:p.Asp277Asn
ENST00000299084.8:c.829G>A	ENSP00000299084.4:p.Asp277Asn
NM_152594.2:c.829G>A	NP_689807.1:p.Asp277Asn
XM_005254202.2:c.865G>A	XP_005254259.1:p.Asp289Asn
XM_005254203.3:c.607G>A	XP_005254260.1:p.Asp203Asn
XM_011521288.1:c.766G>A	XP_011519590.1:p.Asp256Asn
XM_011521289.1:c.766G>A	XP_011519591.1:p.Asp256Asn
XM_011521290.1:c.766G>A	XP_011519592.1:p.Asp256Asn
XM_005254202.3:c.865G>A	XP_005254259.1:p.Asp289Asn
XM_011521289.3:c.766G>A	XP_011519591.1:p.Asp256Asn
NM_152594.3:c.829G>A MANE Select	NP_689807.1:p.Asp277Asn