Canonical Allele Identifier: CA217301996
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs281860674

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393666_6393671dup , CM000673.2:g.6393666_6393671dup GRCh38
NC_000011.9:g.6414896_6414901dup , CM000673.1:g.6414896_6414901dup GRCh37
NC_000011.8:g.6371472_6371477dup NCBI36
NG_011780.1:g.8242_8247dup
NG_029615.1:g.30752_30757dup

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1313_1318dup MANE Select ENSP00000340409.4:p.Trp439_Asn440insSerTr...
ENST00000342245.8:c.1313_1318dup ENSP00000340409.4:p.Trp439_Asn440insSerTr...
ENST00000526280.1:c.370_375dup
ENST00000527275.5:c.1310_1315dup ENSP00000435350.1:p.Trp438_Asn439insSerTr...
ENST00000531303.5:c.*144_*149dup ENSP00000432625.1:n.*144_*149dup
ENST00000531336.1:n.145_150dup
ENST00000532367.1:n.149_154dup
ENST00000533123.5:c.*40_*45dup ENSP00000435950.1:n.*40_*45dup
ENST00000534405.5:c.*144_*149dup ENSP00000434353.1:n.*144_*149dup
NM_000543.4:c.1313_1318dup NP_000534.3:p.Trp439_Asn440insSerTrp
NM_001007593.2:c.1310_1315dup NP_001007594.2:p.Trp438_Asn439insSerTrp
XM_005253075.3:c.1313_1318dup XP_005253132.1:p.Trp439_Asn440insSerTrp
XM_011520303.1:c.1181_1186dup XP_011518605.1:p.Trp395_Asn396insSerTrp
XM_011520304.1:c.1181_1186dup XP_011518606.1:p.Trp395_Asn396insSerTrp
XR_930886.1:n.1651_1656dup
NM_001318087.1:c.1313_1318dup NP_001305016.1:p.Trp439_Asn440insSerTrp
NM_001318088.1:c.392_397dup NP_001305017.1:p.Trp132_Asn133insSerTrp
NM_001365135.1:c.1181_1186dup NP_001352064.1:p.Trp395_Asn396insSerTrp
NR_027400.2:n.1326_1331dup
NR_134502.1:n.845_850dup
XM_011520304.2:c.1181_1186dup XP_011518606.1:p.Trp395_Asn396insSerTrp
XR_001747940.2:n.1478_1483dup
XR_002957158.1:n.1478_1483dup
NM_000543.5:c.1313_1318dup MANE Select NP_000534.3:p.Trp439_Asn440insSerTrp
NM_001007593.3:c.1310_1315dup NP_001007594.2:p.Trp438_Asn439insSerTrp
NM_001318087.2:c.1313_1318dup NP_001305016.1:p.Trp439_Asn440insSerTrp
NM_001318088.2:c.392_397dup NP_001305017.1:p.Trp132_Asn133insSerTrp
NM_001365135.2:c.1181_1186dup NP_001352064.1:p.Trp395_Asn396insSerTrp
NR_027400.3:n.1266_1271dup
NR_134502.2:n.785_790dup