Canonical Allele Identifier: CA16041485

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 371590
• ClinVar RCV Id: RCV000409661
• dbSNP Id: rs1057517390
• MyVariant Identifiers: chr11:g.6414882_6414885del (hg19) ; chr11:g.6393652_6393655del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393652_6393655del , CM000673.2:g.6393652_6393655del	GRCh38
NC_000011.9:g.6414882_6414885del , CM000673.1:g.6414882_6414885del	GRCh37
NC_000011.8:g.6371458_6371461del	NCBI36
NG_011780.1:g.8228_8231del
NG_029615.1:g.30763_30766del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1299_1302del MANE Select	ENSP00000340409.4:p.Cys433Ter
ENST00000342245.8:c.1299_1302del	ENSP00000340409.4:p.Cys433Ter
ENST00000526280.1:c.356_359del
ENST00000527275.5:c.1296_1299del	ENSP00000435350.1:p.Cys432Ter
ENST00000531303.5:c.*130_*133del	ENSP00000432625.1:n.*130_*133del
ENST00000531336.1:n.131_134del
ENST00000532367.1:n.135_138del
ENST00000533123.5:c.*26_*29del	ENSP00000435950.1:n.*26_*29del
ENST00000534405.5:c.*130_*133del	ENSP00000434353.1:n.*130_*133del
NM_000543.4:c.1299_1302del	NP_000534.3:p.Cys433Ter
NM_001007593.2:c.1296_1299del	NP_001007594.2:p.Cys432Ter
XM_005253075.3:c.1299_1302del	XP_005253132.1:p.Cys433Ter
XM_011520303.1:c.1167_1170del	XP_011518605.1:p.Cys389Ter
XM_011520304.1:c.1167_1170del	XP_011518606.1:p.Cys389Ter
XR_930886.1:n.1637_1640del
NM_001318087.1:c.1299_1302del	NP_001305016.1:p.Cys433Ter
NM_001318088.1:c.378_381del	NP_001305017.1:p.Cys126Ter
NM_001365135.1:c.1167_1170del	NP_001352064.1:p.Cys389Ter
NR_027400.2:n.1312_1315del
NR_134502.1:n.831_834del
XM_011520304.2:c.1167_1170del	XP_011518606.1:p.Cys389Ter
XR_001747940.2:n.1464_1467del
XR_002957158.1:n.1464_1467del
NM_000543.5:c.1299_1302del MANE Select	NP_000534.3:p.Cys433Ter
NM_001007593.3:c.1296_1299del	NP_001007594.2:p.Cys432Ter
NM_001318087.2:c.1299_1302del	NP_001305016.1:p.Cys433Ter
NM_001318088.2:c.378_381del	NP_001305017.1:p.Cys126Ter
NM_001365135.2:c.1167_1170del	NP_001352064.1:p.Cys389Ter
NR_027400.3:n.1252_1255del
NR_134502.2:n.771_774del