Canonical Allele Identifier: CA391931944

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1691748
• ClinVar RCV Id: RCV002255199
• dbSNP Id: rs2140994779
• gnomAD v4: 15-38322269-A-G
• MyVariant Identifiers: chr15:g.38614470A>G (hg19) ; chr15:g.38322269A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38322269A>G , CM000677.2:g.38322269A>G	GRCh38
NC_000015.9:g.38614470A>G , CM000677.1:g.38614470A>G	GRCh37
NC_000015.8:g.36401762A>G	NCBI36
NG_008980.1:g.74419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.236A>G MANE Select	ENSP00000299084.4:p.Asp79Gly
ENST00000299084.8:c.236A>G	ENSP00000299084.4:p.Asp79Gly
ENST00000561205.1:n.574A>G
ENST00000561317.1:c.173A>G	ENSP00000453680.1:p.Asp58Gly
NM_152594.2:c.236A>G	NP_689807.1:p.Asp79Gly
XM_005254202.2:c.272A>G	XP_005254259.1:p.Asp91Gly
XM_005254203.3:c.14A>G	XP_005254260.1:p.Asp5Gly
XM_011521288.1:c.173A>G	XP_011519590.1:p.Asp58Gly
XM_011521289.1:c.173A>G	XP_011519591.1:p.Asp58Gly
XM_011521290.1:c.173A>G	XP_011519592.1:p.Asp58Gly
XM_005254202.3:c.272A>G	XP_005254259.1:p.Asp91Gly
XM_011521289.3:c.173A>G	XP_011519591.1:p.Asp58Gly
NM_152594.3:c.236A>G MANE Select	NP_689807.1:p.Asp79Gly