Canonical Allele Identifier: CA918811658

Gene: SMPD1

Linked Data

• dbSNP Id: rs1554933871

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390737_6390741dup , CM000673.2:g.6390737_6390741dup	GRCh38
NC_000011.9:g.6411967_6411971dup , CM000673.1:g.6411967_6411971dup	GRCh37
NC_000011.8:g.6368543_6368547dup	NCBI36
NG_011780.1:g.5313_5317dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.139_143dup MANE Select	ENSP00000340409.4:p.Leu49TrpfsTer30
ENST00000342245.8:c.139_143dup	ENSP00000340409.4:p.Leu49TrpfsTer30
ENST00000527275.5:c.139_143dup	ENSP00000435350.1:p.Leu49TrpfsTer30
ENST00000530395.1:c.-96+98_-96+102dup	ENSP00000431479.1:n.-96+98_-96+102dup
ENST00000531303.5:c.139_143dup	ENSP00000432625.1:p.Leu49TrpfsTer30
ENST00000533123.5:c.139_143dup	ENSP00000435950.1:p.Leu49TrpfsTer30
ENST00000533196.1:n.298_302dup
ENST00000534405.5:c.139_143dup	ENSP00000434353.1:p.Leu49TrpfsTer30
NM_000543.4:c.139_143dup	NP_000534.3:p.Leu49TrpfsTer30
NM_001007593.2:c.139_143dup	NP_001007594.2:p.Leu49TrpfsTer30
XM_005253075.3:c.139_143dup	XP_005253132.1:p.Leu49TrpfsTer30
XM_011520303.1:c.139_143dup	XP_011518605.1:p.Leu49TrpfsTer30
XM_011520304.1:c.139_143dup	XP_011518606.1:p.Leu49TrpfsTer30
XR_930886.1:n.437_441dup
NM_001318087.1:c.139_143dup	NP_001305016.1:p.Leu49TrpfsTer30
NM_001318088.1:c.-823_-819dup	NP_001305017.1:n.-823_-819dup
NM_001365135.1:c.139_143dup	NP_001352064.1:p.Leu49TrpfsTer30
NR_027400.2:n.324_328dup
NR_134502.1:n.324_328dup
XM_011520304.2:c.139_143dup	XP_011518606.1:p.Leu49TrpfsTer30
XR_001747940.2:n.264_268dup
XR_002957158.1:n.264_268dup
NM_000543.5:c.139_143dup MANE Select	NP_000534.3:p.Leu49TrpfsTer30
NM_001007593.3:c.139_143dup	NP_001007594.2:p.Leu49TrpfsTer30
NM_001318087.2:c.139_143dup	NP_001305016.1:p.Leu49TrpfsTer30
NM_001318088.2:c.-823_-819dup	NP_001305017.1:n.-823_-819dup
NM_001365135.2:c.139_143dup	NP_001352064.1:p.Leu49TrpfsTer30
NR_027400.3:n.264_268dup
NR_134502.2:n.264_268dup