Canonical Allele Identifier: CA391933195

Gene: SPRED1

Linked Data

• dbSNP Id: rs1348585688
• gnomAD v2: 15-38643297-G-A
• gnomAD v4: 15-38351096-G-A
• COSMIC: COSM2268634
• MyVariant Identifiers: chr15:g.38643297G>A (hg19) ; chr15:g.38351096G>A (hg38)
• PubMed: PMID:22753041

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351096G>A , CM000677.2:g.38351096G>A	GRCh38
NC_000015.9:g.38643297G>A , CM000677.1:g.38643297G>A	GRCh37
NC_000015.8:g.36430589G>A	NCBI36
NG_008980.1:g.103246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.767G>A MANE Select	ENSP00000299084.4:p.Arg256His
ENST00000299084.8:c.767G>A	ENSP00000299084.4:p.Arg256His
NM_152594.2:c.767G>A	NP_689807.1:p.Arg256His
XM_005254202.2:c.803G>A	XP_005254259.1:p.Arg268His
XM_005254203.3:c.545G>A	XP_005254260.1:p.Arg182His
XM_011521288.1:c.704G>A	XP_011519590.1:p.Arg235His
XM_011521289.1:c.704G>A	XP_011519591.1:p.Arg235His
XM_011521290.1:c.704G>A	XP_011519592.1:p.Arg235His
XM_005254202.3:c.803G>A	XP_005254259.1:p.Arg268His
XM_011521289.3:c.704G>A	XP_011519591.1:p.Arg235His
NM_152594.3:c.767G>A MANE Select	NP_689807.1:p.Arg256His