Canonical Allele Identifier: CA597438321

Gene: SMPD1

Linked Data

• dbSNP Id: rs1250005806
• gnomAD v2: 11-6414508-A-ATTTT
• MyVariant Identifiers: chr11:g.6414508_6414509insTTTT (hg19) ; chr11:g.6393278_6393279insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393280_6393283dup , CM000673.2:g.6393280_6393283dup	GRCh38
NC_000011.9:g.6414510_6414513dup , CM000673.1:g.6414510_6414513dup	GRCh37
NC_000011.8:g.6371086_6371089dup	NCBI36
NG_011780.1:g.7856_7859dup
NG_029615.1:g.31133_31136dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1156_1159dup MANE Select	ENSP00000340409.4:p.Cys387PhefsTer5
ENST00000342245.8:c.1156_1159dup	ENSP00000340409.4:p.Cys387PhefsTer5
ENST00000526280.1:c.321-337_321-334dup
ENST00000527275.5:c.1153_1156dup	ENSP00000435350.1:p.Cys386PhefsTer5
ENST00000531303.5:c.503_506dup	ENSP00000432625.1:p.Leu169PhefsTer11
ENST00000533123.5:c.1092-337_1092-334dup	ENSP00000435950.1:n.1092-337_1092-334dup
ENST00000534405.5:c.1196_1199dup	ENSP00000434353.1:p.Leu400PhefsTer11
NM_000543.4:c.1156_1159dup	NP_000534.3:p.Cys387PhefsTer5
NM_001007593.2:c.1153_1156dup	NP_001007594.2:p.Cys386PhefsTer5
XM_005253075.3:c.1156_1159dup	XP_005253132.1:p.Cys387PhefsTer5
XM_011520303.1:c.1132-337_1132-334dup	XP_011518605.1:n.1132-337_1132-334dup
XM_011520304.1:c.1132-337_1132-334dup	XP_011518606.1:n.1132-337_1132-334dup
XR_930886.1:n.1494_1497dup
NM_001318087.1:c.1156_1159dup	NP_001305016.1:p.Cys387PhefsTer5
NM_001318088.1:c.235_238dup	NP_001305017.1:p.Cys80PhefsTer5
NM_001365135.1:c.1132-337_1132-334dup	NP_001352064.1:n.1132-337_1132-334dup
NR_027400.2:n.1277-337_1277-334dup
NR_134502.1:n.688_691dup
XM_011520304.2:c.1132-337_1132-334dup	XP_011518606.1:n.1132-337_1132-334dup
XR_001747940.2:n.1321_1324dup
XR_002957158.1:n.1321_1324dup
NM_000543.5:c.1156_1159dup MANE Select	NP_000534.3:p.Cys387PhefsTer5
NM_001007593.3:c.1153_1156dup	NP_001007594.2:p.Cys386PhefsTer5
NM_001318087.2:c.1156_1159dup	NP_001305016.1:p.Cys387PhefsTer5
NM_001318088.2:c.235_238dup	NP_001305017.1:p.Cys80PhefsTer5
NM_001365135.2:c.1132-337_1132-334dup	NP_001352064.1:n.1132-337_1132-334dup
NR_027400.3:n.1217-337_1217-334dup
NR_134502.2:n.628_631dup