Canonical Allele Identifier: CA2612221057

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390961-T-TGGGGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390972_6390978dup , CM000673.2:g.6390972_6390978dup	GRCh38
NC_000011.9:g.6412202_6412208dup , CM000673.1:g.6412202_6412208dup	GRCh37
NC_000011.8:g.6368778_6368784dup	NCBI36
NG_011780.1:g.5548_5554dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.318+56_318+62dup MANE Select	ENSP00000340409.4:n.318+56_318+62dup
ENST00000342245.8:c.318+56_318+62dup	ENSP00000340409.4:n.318+56_318+62dup
ENST00000527275.5:c.318+56_318+62dup	ENSP00000435350.1:n.318+56_318+62dup
ENST00000530395.1:c.-96+333_-96+339dup	ENSP00000431479.1:n.-96+333_-96+339dup
ENST00000531303.5:c.318+56_318+62dup	ENSP00000432625.1:n.318+56_318+62dup
ENST00000533123.5:c.318+56_318+62dup	ENSP00000435950.1:n.318+56_318+62dup
ENST00000533196.1:n.374+159_374+165dup
ENST00000534405.5:c.318+56_318+62dup	ENSP00000434353.1:n.318+56_318+62dup
NM_000543.4:c.318+56_318+62dup	NP_000534.3:n.318+56_318+62dup
NM_001007593.2:c.318+56_318+62dup	NP_001007594.2:n.318+56_318+62dup
XM_005253075.3:c.318+56_318+62dup	XP_005253132.1:n.318+56_318+62dup
XM_011520303.1:c.318+56_318+62dup	XP_011518605.1:n.318+56_318+62dup
XM_011520304.1:c.318+56_318+62dup	XP_011518606.1:n.318+56_318+62dup
XR_930886.1:n.616+56_616+62dup
NM_001318087.1:c.318+56_318+62dup	NP_001305016.1:n.318+56_318+62dup
NM_001318088.1:c.-644+56_-644+62dup	NP_001305017.1:n.-644+56_-644+62dup
NM_001365135.1:c.318+56_318+62dup	NP_001352064.1:n.318+56_318+62dup
NR_027400.2:n.503+56_503+62dup
NR_134502.1:n.503+56_503+62dup
XM_011520304.2:c.318+56_318+62dup	XP_011518606.1:n.318+56_318+62dup
XR_001747940.2:n.443+56_443+62dup
XR_002957158.1:n.443+56_443+62dup
NM_000543.5:c.318+56_318+62dup MANE Select	NP_000534.3:n.318+56_318+62dup
NM_001007593.3:c.318+56_318+62dup	NP_001007594.2:n.318+56_318+62dup
NM_001318087.2:c.318+56_318+62dup	NP_001305016.1:n.318+56_318+62dup
NM_001318088.2:c.-644+56_-644+62dup	NP_001305017.1:n.-644+56_-644+62dup
NM_001365135.2:c.318+56_318+62dup	NP_001352064.1:n.318+56_318+62dup
NR_027400.3:n.443+56_443+62dup
NR_134502.2:n.443+56_443+62dup