Canonical Allele Identifier: CA7470189

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1334308
• ClinVar RCV Id: RCV001813723
• dbSNP Id: rs780737673
• ExAC: 15:38643353 G / T
• gnomAD v2: 15-38643353-G-T
• gnomAD v4: 15-38351152-G-T
• MyVariant Identifiers: chr15:g.38643353G>T (hg19) ; chr15:g.38351152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351152G>T , CM000677.2:g.38351152G>T	GRCh38
NC_000015.9:g.38643353G>T , CM000677.1:g.38643353G>T	GRCh37
NC_000015.8:g.36430645G>T	NCBI36
NG_008980.1:g.103302G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.823G>T MANE Select	ENSP00000299084.4:p.Asp275Tyr
ENST00000299084.8:c.823G>T	ENSP00000299084.4:p.Asp275Tyr
NM_152594.2:c.823G>T	NP_689807.1:p.Asp275Tyr
XM_005254202.2:c.859G>T	XP_005254259.1:p.Asp287Tyr
XM_005254203.3:c.601G>T	XP_005254260.1:p.Asp201Tyr
XM_011521288.1:c.760G>T	XP_011519590.1:p.Asp254Tyr
XM_011521289.1:c.760G>T	XP_011519591.1:p.Asp254Tyr
XM_011521290.1:c.760G>T	XP_011519592.1:p.Asp254Tyr
XM_005254202.3:c.859G>T	XP_005254259.1:p.Asp287Tyr
XM_011521289.3:c.760G>T	XP_011519591.1:p.Asp254Tyr
NM_152594.3:c.823G>T MANE Select	NP_689807.1:p.Asp275Tyr