Canonical Allele Identifier: CA1950146453
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392023A= , CM000673.2:g.6392023A= GRCh38
NC_000011.9:g.6413253A= , CM000673.1:g.6413253A= GRCh37
NC_000011.8:g.6369829A= NCBI36
NG_011780.1:g.6599A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.958A= MANE Select ENSP00000340409.4:p.Asn320=
ENST00000342245.8:c.958A= ENSP00000340409.4:p.Asn320=
ENST00000526280.1:c.147A=
ENST00000527275.5:c.955A= ENSP00000435350.1:p.Asn319=
ENST00000530395.1:c.139A= ENSP00000431479.1:p.Asn47=
ENST00000531303.5:c.438+520A= ENSP00000432625.1:n.438+520A=
ENST00000533123.5:c.958A= ENSP00000435950.1:p.Asn320=
ENST00000533196.1:n.392A=
ENST00000534405.5:c.958A= ENSP00000434353.1:p.Asn320=
NM_000543.4:c.958A= NP_000534.3:p.Asn320=
NM_001007593.2:c.955A= NP_001007594.2:p.Asn319=
XM_005253075.3:c.958A= XP_005253132.1:p.Asn320=
XM_011520303.1:c.958A= XP_011518605.1:p.Asn320=
XM_011520304.1:c.958A= XP_011518606.1:p.Asn320=
XR_930886.1:n.1256A=
NM_001318087.1:c.958A= NP_001305016.1:p.Asn320=
NM_001318088.1:c.-4A= NP_001305017.1:n.-4A=
NM_001365135.1:c.958A= NP_001352064.1:p.Asn320=
NR_027400.2:n.1143A=
NR_134502.1:n.623+520A=
XM_011520304.2:c.958A= XP_011518606.1:p.Asn320=
XR_001747940.2:n.1083A=
XR_002957158.1:n.1083A=
NM_000543.5:c.958A= MANE Select NP_000534.3:p.Asn320=
NM_001007593.3:c.955A= NP_001007594.2:p.Asn319=
NM_001318087.2:c.958A= NP_001305016.1:p.Asn320=
NM_001318088.2:c.-4A= NP_001305017.1:n.-4A=
NM_001365135.2:c.958A= NP_001352064.1:p.Asn320=
NR_027400.3:n.1083A=
NR_134502.2:n.563+520A=