Canonical Allele Identifier: CA918811636

Gene: SMPD1

Linked Data

• dbSNP Id: rs1554933807

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390705_6390706del , CM000673.2:g.6390705_6390706del	GRCh38
NC_000011.9:g.6411935_6411936del , CM000673.1:g.6411935_6411936del	GRCh37
NC_000011.8:g.6368511_6368512del	NCBI36
NG_011780.1:g.5281_5282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.107_108del MANE Select	ENSP00000340409.4:p.Val36AlafsTer15
ENST00000342245.8:c.107_108del	ENSP00000340409.4:p.Val36AlafsTer15
ENST00000527275.5:c.107_108del	ENSP00000435350.1:p.Val36AlafsTer15
ENST00000530395.1:c.-96+66_-96+67del	ENSP00000431479.1:n.-96+66_-96+67del
ENST00000531303.5:c.107_108del	ENSP00000432625.1:p.Val36AlafsTer15
ENST00000533123.5:c.107_108del	ENSP00000435950.1:p.Val36AlafsTer15
ENST00000533196.1:n.266_267del
ENST00000534405.5:c.107_108del	ENSP00000434353.1:p.Val36AlafsTer15
NM_000543.4:c.107_108del	NP_000534.3:p.Val36AlafsTer15
NM_001007593.2:c.107_108del	NP_001007594.2:p.Val36AlafsTer15
XM_005253075.3:c.107_108del	XP_005253132.1:p.Val36AlafsTer15
XM_011520303.1:c.107_108del	XP_011518605.1:p.Val36AlafsTer15
XM_011520304.1:c.107_108del	XP_011518606.1:p.Val36AlafsTer15
XR_930886.1:n.405_406del
NM_001318087.1:c.107_108del	NP_001305016.1:p.Val36AlafsTer15
NM_001318088.1:c.-855_-854del	NP_001305017.1:n.-855_-854del
NM_001365135.1:c.107_108del	NP_001352064.1:p.Val36AlafsTer15
NR_027400.2:n.292_293del
NR_134502.1:n.292_293del
XM_011520304.2:c.107_108del	XP_011518606.1:p.Val36AlafsTer15
XR_001747940.2:n.232_233del
XR_002957158.1:n.232_233del
NM_000543.5:c.107_108del MANE Select	NP_000534.3:p.Val36AlafsTer15
NM_001007593.3:c.107_108del	NP_001007594.2:p.Val36AlafsTer15
NM_001318087.2:c.107_108del	NP_001305016.1:p.Val36AlafsTer15
NM_001318088.2:c.-855_-854del	NP_001305017.1:n.-855_-854del
NM_001365135.2:c.107_108del	NP_001352064.1:p.Val36AlafsTer15
NR_027400.3:n.232_233del
NR_134502.2:n.232_233del