Canonical Allele Identifier: CA16042992

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 372629
• ClinVar RCV Id: RCV001368168
• dbSNP Id: rs941091989
• gnomAD v2: 15-38643812-C-T
• gnomAD v3: 15-38351611-C-T
• gnomAD v4: 15-38351611-C-T
• MyVariant Identifiers: chr15:g.38643812C>T (hg19) ; chr15:g.38351611C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351611C>T , CM000677.2:g.38351611C>T	GRCh38
NC_000015.9:g.38643812C>T , CM000677.1:g.38643812C>T	GRCh37
NC_000015.8:g.36431104C>T	NCBI36
NG_008980.1:g.103761C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1282C>T MANE Select	ENSP00000299084.4:p.Arg428Cys
ENST00000299084.8:c.1282C>T	ENSP00000299084.4:p.Arg428Cys
NM_152594.2:c.1282C>T	NP_689807.1:p.Arg428Cys
XM_005254202.2:c.1318C>T	XP_005254259.1:p.Arg440Cys
XM_005254203.3:c.1060C>T	XP_005254260.1:p.Arg354Cys
XM_011521288.1:c.1219C>T	XP_011519590.1:p.Arg407Cys
XM_011521289.1:c.1219C>T	XP_011519591.1:p.Arg407Cys
XM_011521290.1:c.1219C>T	XP_011519592.1:p.Arg407Cys
XM_005254202.3:c.1318C>T	XP_005254259.1:p.Arg440Cys
XM_011521289.3:c.1219C>T	XP_011519591.1:p.Arg407Cys
NM_152594.3:c.1282C>T MANE Select	NP_689807.1:p.Arg428Cys