Canonical Allele Identifier: CA658658253

Gene: SRP54

Linked Data

• ClinVar Variation Id: 430852
• ClinVar RCV Id: RCV000999506 ; RCV000577900 ; RCV000731602
• dbSNP Id: rs1555354198
• MyVariant Identifiers: chr14:g.35476582_35476584del (hg19) ; chr14:g.35007376_35007378del (hg38)
• PubMed: PMID:28972538

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35007376_35007378del , CM000676.2:g.35007376_35007378del	GRCh38
NC_000014.8:g.35476582_35476584del , CM000676.1:g.35476582_35476584del	GRCh37
NC_000014.7:g.34546333_34546335del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216774.11:c.349_351del MANE Select	ENSP00000216774.6:p.Thr117del
ENST00000546080.6:c.172_174del	ENSP00000440629.2:p.Thr58del
ENST00000553923.2:n.627_629del
ENST00000555746.6:c.349_351del	ENSP00000451647.2:p.Thr117del
ENST00000677561.1:n.635_637del
ENST00000677621.1:n.627_629del
ENST00000677647.1:c.349_351del	ENSP00000504673.1:p.Thr117del
ENST00000678274.1:c.*87_*89del	ENSP00000504600.1:n.*87_*89del
ENST00000678477.1:c.349_351del	ENSP00000504671.1:p.Thr117del
ENST00000678519.1:c.*87_*89del	ENSP00000504376.1:n.*87_*89del
ENST00000678627.1:c.259_261del	ENSP00000504550.1:p.Thr87del
ENST00000678836.1:c.349_351del	ENSP00000504412.1:p.Thr117del
ENST00000678963.1:c.349_351del	ENSP00000504518.1:p.Thr117del
ENST00000679045.1:n.627_629del
ENST00000216774.10:c.349_351del	ENSP00000216774.6:p.Thr117del
ENST00000546080.5:c.202_204del	ENSP00000440629.1:p.Thr68del
ENST00000555557.5:c.157_159del	ENSP00000451775.1:p.Thr53del
ENST00000556380.3:c.117-1276_117-1274del	ENSP00000451313.1:n.117-1276_117-1274del
ENST00000556994.5:c.349_351del	ENSP00000451818.1:p.Thr117del
ENST00000630962.1:c.117-1276_117-1274del	ENSP00000486764.1:n.117-1276_117-1274del
NM_001146282.1:c.202_204del	NP_001139754.1:p.Thr68del
NM_003136.3:c.349_351del	NP_003127.1:p.Thr117del
XM_005268024.1:c.349_351del	XP_005268081.1:p.Thr117del
XM_011537106.1:c.349_351del	XP_011535408.1:p.Thr117del
XM_011537107.1:c.37_39del	XP_011535409.1:p.Thr13del
XM_005268024.3:c.349_351del	XP_005268081.1:p.Thr117del
XM_017021615.2:c.37_39del	XP_016877104.1:p.Thr13del
NM_003136.4:c.349_351del MANE Select	NP_003127.1:p.Thr117del
NM_001146282.2:c.202_204del	NP_001139754.1:p.Thr68del