Canonical Allele Identifier: CA2612221064

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390967-T-TGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390968_6390973dup , CM000673.2:g.6390968_6390973dup	GRCh38
NC_000011.9:g.6412198_6412203dup , CM000673.1:g.6412198_6412203dup	GRCh37
NC_000011.8:g.6368774_6368779dup	NCBI36
NG_011780.1:g.5544_5549dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.318+52_318+57dup MANE Select	ENSP00000340409.4:n.318+52_318+57dup
ENST00000342245.8:c.318+52_318+57dup	ENSP00000340409.4:n.318+52_318+57dup
ENST00000527275.5:c.318+52_318+57dup	ENSP00000435350.1:n.318+52_318+57dup
ENST00000530395.1:c.-96+329_-96+334dup	ENSP00000431479.1:n.-96+329_-96+334dup
ENST00000531303.5:c.318+52_318+57dup	ENSP00000432625.1:n.318+52_318+57dup
ENST00000533123.5:c.318+52_318+57dup	ENSP00000435950.1:n.318+52_318+57dup
ENST00000533196.1:n.374+155_374+160dup
ENST00000534405.5:c.318+52_318+57dup	ENSP00000434353.1:n.318+52_318+57dup
NM_000543.4:c.318+52_318+57dup	NP_000534.3:n.318+52_318+57dup
NM_001007593.2:c.318+52_318+57dup	NP_001007594.2:n.318+52_318+57dup
XM_005253075.3:c.318+52_318+57dup	XP_005253132.1:n.318+52_318+57dup
XM_011520303.1:c.318+52_318+57dup	XP_011518605.1:n.318+52_318+57dup
XM_011520304.1:c.318+52_318+57dup	XP_011518606.1:n.318+52_318+57dup
XR_930886.1:n.616+52_616+57dup
NM_001318087.1:c.318+52_318+57dup	NP_001305016.1:n.318+52_318+57dup
NM_001318088.1:c.-644+52_-644+57dup	NP_001305017.1:n.-644+52_-644+57dup
NM_001365135.1:c.318+52_318+57dup	NP_001352064.1:n.318+52_318+57dup
NR_027400.2:n.503+52_503+57dup
NR_134502.1:n.503+52_503+57dup
XM_011520304.2:c.318+52_318+57dup	XP_011518606.1:n.318+52_318+57dup
XR_001747940.2:n.443+52_443+57dup
XR_002957158.1:n.443+52_443+57dup
NM_000543.5:c.318+52_318+57dup MANE Select	NP_000534.3:n.318+52_318+57dup
NM_001007593.3:c.318+52_318+57dup	NP_001007594.2:n.318+52_318+57dup
NM_001318087.2:c.318+52_318+57dup	NP_001305016.1:n.318+52_318+57dup
NM_001318088.2:c.-644+52_-644+57dup	NP_001305017.1:n.-644+52_-644+57dup
NM_001365135.2:c.318+52_318+57dup	NP_001352064.1:n.318+52_318+57dup
NR_027400.3:n.443+52_443+57dup
NR_134502.2:n.443+52_443+57dup