Canonical Allele Identifier: CA2612221405
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391623_6391624insGGC , CM000673.2:g.6391623_6391624insGGC GRCh38
NC_000011.9:g.6412853_6412854insGGC , CM000673.1:g.6412853_6412854insGGC GRCh37
NC_000011.8:g.6369429_6369430insGGC NCBI36
NG_011780.1:g.6199_6200insGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.558_559insGGC MANE Select ENSP00000340409.4:p.Pro186_Pro187insGly
ENST00000342245.8:c.558_559insGGC ENSP00000340409.4:p.Pro186_Pro187insGly
ENST00000527275.5:c.555_556insGGC ENSP00000435350.1:p.Pro185_Pro186insGly
ENST00000530395.1:c.-95-167_-95-166insGGC ENSP00000431479.1:n.-95-167_-95-166insGGC
ENST00000531303.5:c.438+120_438+121insGGC ENSP00000432625.1:n.438+120_438+121insGGC
ENST00000533123.5:c.558_559insGGC ENSP00000435950.1:p.Pro186_Pro187insGly
ENST00000533196.1:n.375-383_375-382insGGC
ENST00000534405.5:c.558_559insGGC ENSP00000434353.1:p.Pro186_Pro187insGly
NM_000543.4:c.558_559insGGC NP_000534.3:p.Pro186_Pro187insGly
NM_001007593.2:c.555_556insGGC NP_001007594.2:p.Pro185_Pro186insGly
XM_005253075.3:c.558_559insGGC XP_005253132.1:p.Pro186_Pro187insGly
XM_011520303.1:c.558_559insGGC XP_011518605.1:p.Pro186_Pro187insGly
XM_011520304.1:c.558_559insGGC XP_011518606.1:p.Pro186_Pro187insGly
XR_930886.1:n.856_857insGGC
NM_001318087.1:c.558_559insGGC NP_001305016.1:p.Pro186_Pro187insGly
NM_001318088.1:c.-404_-403insGGC NP_001305017.1:n.-404_-403insGGC
NM_001365135.1:c.558_559insGGC NP_001352064.1:p.Pro186_Pro187insGly
NR_027400.2:n.743_744insGGC
NR_134502.1:n.623+120_623+121insGGC
XM_011520304.2:c.558_559insGGC XP_011518606.1:p.Pro186_Pro187insGly
XR_001747940.2:n.683_684insGGC
XR_002957158.1:n.683_684insGGC
NM_000543.5:c.558_559insGGC MANE Select NP_000534.3:p.Pro186_Pro187insGly
NM_001007593.3:c.555_556insGGC NP_001007594.2:p.Pro185_Pro186insGly
NM_001318087.2:c.558_559insGGC NP_001305016.1:p.Pro186_Pro187insGly
NM_001318088.2:c.-404_-403insGGC NP_001305017.1:n.-404_-403insGGC
NM_001365135.2:c.558_559insGGC NP_001352064.1:p.Pro186_Pro187insGly
NR_027400.3:n.683_684insGGC
NR_134502.2:n.563+120_563+121insGGC