Canonical Allele Identifier: CA391933819

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 536693
• ClinVar RCV Id: RCV000645301 ; RCV001813536
• dbSNP Id: rs750777752
• MyVariant Identifiers: chr15:g.38591593C>T (hg19) ; chr15:g.38299392C>T (hg38)
• PubMed: PMID:19920235

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299392C>T , CM000677.2:g.38299392C>T	GRCh38
NC_000015.9:g.38591593C>T , CM000677.1:g.38591593C>T	GRCh37
NC_000015.8:g.36378885C>T	NCBI36
NG_008980.1:g.51542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.52C>T MANE Select	ENSP00000299084.4:p.Arg18Ter
ENST00000299084.8:c.52C>T	ENSP00000299084.4:p.Arg18Ter
ENST00000561205.1:n.390C>T
ENST00000561317.1:c.-12C>T	ENSP00000453680.1:n.-12C>T
NM_152594.2:c.52C>T	NP_689807.1:p.Arg18Ter
XM_005254202.2:c.88C>T	XP_005254259.1:p.Arg30Ter
XM_005254203.3:c.-15-22849C>T	XP_005254260.1:n.-15-22849C>T
XM_011521288.1:c.-12C>T	XP_011519590.1:n.-12C>T
XM_011521289.1:c.-12C>T	XP_011519591.1:n.-12C>T
XM_011521290.1:c.-12C>T	XP_011519592.1:n.-12C>T
XM_005254202.3:c.88C>T	XP_005254259.1:p.Arg30Ter
XM_011521289.3:c.-12C>T	XP_011519591.1:n.-12C>T
NM_152594.3:c.52C>T MANE Select	NP_689807.1:p.Arg18Ter