Canonical Allele Identifier: CA2841752149

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393683dup , CM000673.2:g.6393683dup	GRCh38
NC_000011.9:g.6414913dup , CM000673.1:g.6414913dup	GRCh37
NC_000011.8:g.6371489dup	NCBI36
NG_011780.1:g.8259dup
NG_029615.1:g.30733dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1330dup MANE Select	ENSP00000340409.4:p.Ile444AsnfsTer6
ENST00000342245.8:c.1330dup	ENSP00000340409.4:p.Ile444AsnfsTer6
ENST00000526280.1:c.387dup
ENST00000527275.5:c.1327dup	ENSP00000435350.1:p.Ile443AsnfsTer6
ENST00000531303.5:c.*161dup	ENSP00000432625.1:n.*161dup
ENST00000531336.1:n.162dup
ENST00000532367.1:n.166dup
ENST00000533123.5:c.*57dup	ENSP00000435950.1:n.*57dup
ENST00000534405.5:c.*161dup	ENSP00000434353.1:n.*161dup
NM_000543.4:c.1330dup	NP_000534.3:p.Ile444AsnfsTer6
NM_001007593.2:c.1327dup	NP_001007594.2:p.Ile443AsnfsTer6
XM_005253075.3:c.1330dup	XP_005253132.1:p.Ile444AsnfsTer6
XM_011520303.1:c.1198dup	XP_011518605.1:p.Ile400AsnfsTer6
XM_011520304.1:c.1198dup	XP_011518606.1:p.Ile400AsnfsTer6
XR_930886.1:n.1668dup
NM_001318087.1:c.1330dup	NP_001305016.1:p.Ile444AsnfsTer6
NM_001318088.1:c.409dup	NP_001305017.1:p.Ile137AsnfsTer6
NM_001365135.1:c.1198dup	NP_001352064.1:p.Ile400AsnfsTer6
NR_027400.2:n.1343dup
NR_134502.1:n.862dup
XM_011520304.2:c.1198dup	XP_011518606.1:p.Ile400AsnfsTer6
XR_001747940.2:n.1495dup
XR_002957158.1:n.1495dup
NM_000543.5:c.1330dup MANE Select	NP_000534.3:p.Ile444AsnfsTer6
NM_001007593.3:c.1327dup	NP_001007594.2:p.Ile443AsnfsTer6
NM_001318087.2:c.1330dup	NP_001305016.1:p.Ile444AsnfsTer6
NM_001318088.2:c.409dup	NP_001305017.1:p.Ile137AsnfsTer6
NM_001365135.2:c.1198dup	NP_001352064.1:p.Ile400AsnfsTer6
NR_027400.3:n.1283dup
NR_134502.2:n.802dup