Canonical Allele Identifier: CA2790309851

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394659dup , CM000673.2:g.6394659dup	GRCh38
NC_000011.9:g.6415889dup , CM000673.1:g.6415889dup	GRCh37
NC_000011.8:g.6372465dup	NCBI36
NG_011780.1:g.9235dup
NG_029615.1:g.29760dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*52dup MANE Select	ENSP00000340409.4:n.*52dup
ENST00000342245.8:c.*52dup	ENSP00000340409.4:n.*52dup
ENST00000526280.1:c.1005dup
ENST00000527275.5:c.*52dup	ENSP00000435350.1:n.*52dup
ENST00000531303.5:c.*799dup	ENSP00000432625.1:n.*799dup
ENST00000533123.5:c.*675dup	ENSP00000435950.1:n.*675dup
ENST00000534405.5:c.*779dup	ENSP00000434353.1:n.*779dup
NM_000543.4:c.*52dup	NP_000534.3:n.*52dup
NM_001007593.2:c.*52dup	NP_001007594.2:n.*52dup
XM_011520303.1:c.*52dup	XP_011518605.1:n.*52dup
NM_001318087.1:c.*441dup	NP_001305016.1:n.*441dup
NM_001318088.1:c.*52dup	NP_001305017.1:n.*52dup
NM_001365135.1:c.*52dup	NP_001352064.1:n.*52dup
NR_027400.2:n.1961dup
NR_134502.1:n.1500dup
XR_001747940.2:n.2133dup
XR_002957158.1:n.2315dup
NM_000543.5:c.*52dup MANE Select	NP_000534.3:n.*52dup
NM_001007593.3:c.*52dup	NP_001007594.2:n.*52dup
NM_001318087.2:c.*441dup	NP_001305016.1:n.*441dup
NM_001318088.2:c.*52dup	NP_001305017.1:n.*52dup
NM_001365135.2:c.*52dup	NP_001352064.1:n.*52dup
NR_027400.3:n.1901dup
NR_134502.2:n.1440dup