Canonical Allele Identifier: CA1950149575
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394297_6394298delinsCG , CM000673.2:g.6394297_6394298delinsCG GRCh38
NC_000011.9:g.6415527_6415528delinsCG , CM000673.1:g.6415527_6415528delinsCG GRCh37
NC_000011.8:g.6372103_6372104delinsCG NCBI36
NG_011780.1:g.8873_8874delinsCG
NG_029615.1:g.30117_30118delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1586_1587delinsCG MANE Select ENSP00000340409.4:p.Pro529=
ENST00000342245.8:c.1586_1587delinsCG ENSP00000340409.4:p.Pro529=
ENST00000526280.1:c.643_644delinsCG
ENST00000527275.5:c.1583_1584delinsCG ENSP00000435350.1:p.Pro528=
ENST00000531303.5:c.*437_*438delinsCG ENSP00000432625.1:n.*437_*438delinsCG
ENST00000531336.1:n.574_575delinsCG
ENST00000533123.5:c.*313_*314delinsCG ENSP00000435950.1:n.*313_*314delinsCG
ENST00000534405.5:c.*417_*418delinsCG ENSP00000434353.1:n.*417_*418delinsCG
NM_000543.4:c.1586_1587delinsCG NP_000534.3:p.Pro529=
NM_001007593.2:c.1583_1584delinsCG NP_001007594.2:p.Pro528=
XM_005253075.3:c.*79_*80delinsCG XP_005253132.1:n.*79_*80delinsCG
XM_011520303.1:c.1454_1455delinsCG XP_011518605.1:p.Pro485=
XM_011520304.1:c.*79_*80delinsCG XP_011518606.1:n.*79_*80delinsCG
NM_001318087.1:c.*79_*80delinsCG NP_001305016.1:n.*79_*80delinsCG
NM_001318088.1:c.665_666delinsCG NP_001305017.1:p.Pro222=
NM_001365135.1:c.1454_1455delinsCG NP_001352064.1:p.Pro485=
NR_027400.2:n.1599_1600delinsCG
NR_134502.1:n.1138_1139delinsCG
XM_011520304.2:c.*79_*80delinsCG XP_011518606.1:n.*79_*80delinsCG
XR_001747940.2:n.1771_1772delinsCG
XR_002957158.1:n.1953_1954delinsCG
NM_000543.5:c.1586_1587delinsCG MANE Select NP_000534.3:p.Pro529=
NM_001007593.3:c.1583_1584delinsCG NP_001007594.2:p.Pro528=
NM_001318087.2:c.*79_*80delinsCG NP_001305016.1:n.*79_*80delinsCG
NM_001318088.2:c.665_666delinsCG NP_001305017.1:p.Pro222=
NM_001365135.2:c.1454_1455delinsCG NP_001352064.1:p.Pro485=
NR_027400.3:n.1539_1540delinsCG
NR_134502.2:n.1078_1079delinsCG