Canonical Allele Identifier: CA2695201073

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2679037
• ClinVar RCV Id: RCV003474051

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392028del , CM000673.2:g.6392028del	GRCh38
NC_000011.9:g.6413258del , CM000673.1:g.6413258del	GRCh37
NC_000011.8:g.6369834del	NCBI36
NG_011780.1:g.6604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.963del MANE Select	ENSP00000340409.4:p.His321GlnfsTer?
ENST00000342245.8:c.963del	ENSP00000340409.4:p.His321GlnfsTer?
ENST00000526280.1:c.152del
ENST00000527275.5:c.960del	ENSP00000435350.1:p.His320GlnfsTer?
ENST00000530395.1:c.144del	ENSP00000431479.1:p.His48GlnfsTer?
ENST00000531303.5:c.438+525del	ENSP00000432625.1:n.438+525del
ENST00000533123.5:c.963del	ENSP00000435950.1:p.His321GlnfsTer?
ENST00000533196.1:n.397del
ENST00000534405.5:c.963del	ENSP00000434353.1:p.His321GlnfsTer?
NM_000543.4:c.963del	NP_000534.3:p.His321GlnfsTer?
NM_001007593.2:c.960del	NP_001007594.2:p.His320GlnfsTer?
XM_005253075.3:c.963del	XP_005253132.1:p.His321GlnfsTer?
XM_011520303.1:c.963del	XP_011518605.1:p.His321GlnfsTer?
XM_011520304.1:c.963del	XP_011518606.1:p.His321GlnfsTer?
XR_930886.1:n.1261del
NM_001318087.1:c.963del	NP_001305016.1:p.His321GlnfsTer?
NM_001318088.1:c.2del	NP_001305017.1:p.Met1ArgfsTer7
NM_001365135.1:c.963del	NP_001352064.1:p.His321GlnfsTer?
NR_027400.2:n.1148del
NR_134502.1:n.623+525del
XM_011520304.2:c.963del	XP_011518606.1:p.His321GlnfsTer?
XR_001747940.2:n.1088del
XR_002957158.1:n.1088del
NM_000543.5:c.963del MANE Select	NP_000534.3:p.His321GlnfsTer?
NM_001007593.3:c.960del	NP_001007594.2:p.His320GlnfsTer?
NM_001318087.2:c.963del	NP_001305016.1:p.His321GlnfsTer?
NM_001318088.2:c.2del	NP_001305017.1:p.Met1ArgfsTer7
NM_001365135.2:c.963del	NP_001352064.1:p.His321GlnfsTer?
NR_027400.3:n.1088del
NR_134502.2:n.563+525del