Canonical Allele Identifier: CA2723275679

Gene: SMPD1

Linked Data

• dbSNP Id: rs2134022411

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394143dup , CM000673.2:g.6394143dup	GRCh38
NC_000011.9:g.6415373dup , CM000673.1:g.6415373dup	GRCh37
NC_000011.8:g.6371949dup	NCBI36
NG_011780.1:g.8719dup
NG_029615.1:g.30275dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-55dup MANE Select	ENSP00000340409.4:n.1487-55dup
ENST00000342245.8:c.1487-55dup	ENSP00000340409.4:n.1487-55dup
ENST00000526280.1:c.544-55dup
ENST00000527275.5:c.1484-55dup	ENSP00000435350.1:n.1484-55dup
ENST00000531303.5:c.*318-35dup	ENSP00000432625.1:n.*318-35dup
ENST00000531336.1:n.420dup
ENST00000533123.5:c.*214-55dup	ENSP00000435950.1:n.*214-55dup
ENST00000534405.5:c.*318-55dup	ENSP00000434353.1:n.*318-55dup
NM_000543.4:c.1487-55dup	NP_000534.3:n.1487-55dup
NM_001007593.2:c.1484-55dup	NP_001007594.2:n.1484-55dup
XM_005253075.3:c.1487-35dup	XP_005253132.1:n.1487-35dup
XM_011520303.1:c.1355-55dup	XP_011518605.1:n.1355-55dup
XM_011520304.1:c.1355-35dup	XP_011518606.1:n.1355-35dup
NM_001318087.1:c.1487-35dup	NP_001305016.1:n.1487-35dup
NM_001318088.1:c.566-55dup	NP_001305017.1:n.566-55dup
NM_001365135.1:c.1355-55dup	NP_001352064.1:n.1355-55dup
NR_027400.2:n.1500-55dup
NR_134502.1:n.1019-35dup
XM_011520304.2:c.1355-35dup	XP_011518606.1:n.1355-35dup
XR_001747940.2:n.1652-35dup
XR_002957158.1:n.1854-55dup
NM_000543.5:c.1487-55dup MANE Select	NP_000534.3:n.1487-55dup
NM_001007593.3:c.1484-55dup	NP_001007594.2:n.1484-55dup
NM_001318087.2:c.1487-35dup	NP_001305016.1:n.1487-35dup
NM_001318088.2:c.566-55dup	NP_001305017.1:n.566-55dup
NM_001365135.2:c.1355-55dup	NP_001352064.1:n.1355-55dup
NR_027400.3:n.1440-55dup
NR_134502.2:n.959-35dup