Canonical Allele Identifier: CA2612222747
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393172_6393181dup , CM000673.2:g.6393172_6393181dup GRCh38
NC_000011.9:g.6414402_6414411dup , CM000673.1:g.6414402_6414411dup GRCh37
NC_000011.8:g.6370978_6370987dup NCBI36
NG_011780.1:g.7748_7757dup
NG_029615.1:g.31234_31243dup

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1092-44_1092-35dup MANE Select ENSP00000340409.4:n.1092-44_1092-35dup
ENST00000342245.8:c.1092-44_1092-35dup ENSP00000340409.4:n.1092-44_1092-35dup
ENST00000526280.1:c.321-445_321-436dup
ENST00000527275.5:c.1089-44_1089-35dup ENSP00000435350.1:n.1089-44_1089-35dup
ENST00000531303.5:c.439-44_439-35dup ENSP00000432625.1:n.439-44_439-35dup
ENST00000533123.5:c.1092-445_1092-436dup ENSP00000435950.1:n.1092-445_1092-436dup
ENST00000534405.5:c.1132-44_1132-35dup ENSP00000434353.1:n.1132-44_1132-35dup
NM_000543.4:c.1092-44_1092-35dup NP_000534.3:n.1092-44_1092-35dup
NM_001007593.2:c.1089-44_1089-35dup NP_001007594.2:n.1089-44_1089-35dup
XM_005253075.3:c.1092-44_1092-35dup XP_005253132.1:n.1092-44_1092-35dup
XM_011520303.1:c.1132-445_1132-436dup XP_011518605.1:n.1132-445_1132-436dup
XM_011520304.1:c.1132-445_1132-436dup XP_011518606.1:n.1132-445_1132-436dup
XR_930886.1:n.1430-44_1430-35dup
NM_001318087.1:c.1092-44_1092-35dup NP_001305016.1:n.1092-44_1092-35dup
NM_001318088.1:c.171-44_171-35dup NP_001305017.1:n.171-44_171-35dup
NM_001365135.1:c.1132-445_1132-436dup NP_001352064.1:n.1132-445_1132-436dup
NR_027400.2:n.1277-445_1277-436dup
NR_134502.1:n.624-44_624-35dup
XM_011520304.2:c.1132-445_1132-436dup XP_011518606.1:n.1132-445_1132-436dup
XR_001747940.2:n.1257-44_1257-35dup
XR_002957158.1:n.1257-44_1257-35dup
NM_000543.5:c.1092-44_1092-35dup MANE Select NP_000534.3:n.1092-44_1092-35dup
NM_001007593.3:c.1089-44_1089-35dup NP_001007594.2:n.1089-44_1089-35dup
NM_001318087.2:c.1092-44_1092-35dup NP_001305016.1:n.1092-44_1092-35dup
NM_001318088.2:c.171-44_171-35dup NP_001305017.1:n.171-44_171-35dup
NM_001365135.2:c.1132-445_1132-436dup NP_001352064.1:n.1132-445_1132-436dup
NR_027400.3:n.1217-445_1217-436dup
NR_134502.2:n.564-44_564-35dup