Canonical Allele Identifier: CA7470144

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 956668
• ClinVar RCV Id: RCV002366026
• dbSNP Id: rs376699107
• ExAC: 15:38641680 C / T
• gnomAD v2: 15-38641680-C-T
• gnomAD v3: 15-38349479-C-T
• gnomAD v4: 15-38349479-C-T
• MyVariant Identifiers: chr15:g.38641680C>T (hg19) ; chr15:g.38349479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349479C>T , CM000677.2:g.38349479C>T	GRCh38
NC_000015.9:g.38641680C>T , CM000677.1:g.38641680C>T	GRCh37
NC_000015.8:g.36428972C>T	NCBI36
NG_008980.1:g.101629C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.640C>T MANE Select	ENSP00000299084.4:p.Arg214Trp
ENST00000299084.8:c.640C>T	ENSP00000299084.4:p.Arg214Trp
NM_152594.2:c.640C>T	NP_689807.1:p.Arg214Trp
XM_005254202.2:c.676C>T	XP_005254259.1:p.Arg226Trp
XM_005254203.3:c.418C>T	XP_005254260.1:p.Arg140Trp
XM_011521288.1:c.577C>T	XP_011519590.1:p.Arg193Trp
XM_011521289.1:c.577C>T	XP_011519591.1:p.Arg193Trp
XM_011521290.1:c.577C>T	XP_011519592.1:p.Arg193Trp
XM_005254202.3:c.676C>T	XP_005254259.1:p.Arg226Trp
XM_011521289.3:c.577C>T	XP_011519591.1:p.Arg193Trp
NM_152594.3:c.640C>T MANE Select	NP_689807.1:p.Arg214Trp