Canonical Allele Identifier: CA1950146334
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391799A= , CM000673.2:g.6391799A= GRCh38
NC_000011.9:g.6413029A= , CM000673.1:g.6413029A= GRCh37
NC_000011.8:g.6369605A= NCBI36
NG_011780.1:g.6375A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.734A= MANE Select ENSP00000340409.4:p.Tyr245=
ENST00000342245.8:c.734A= ENSP00000340409.4:p.Tyr245=
ENST00000527275.5:c.731A= ENSP00000435350.1:p.Tyr244=
ENST00000530395.1:c.-86A= ENSP00000431479.1:n.-86A=
ENST00000531303.5:c.438+296A= ENSP00000432625.1:n.438+296A=
ENST00000533123.5:c.734A= ENSP00000435950.1:p.Tyr245=
ENST00000533196.1:n.375-207A=
ENST00000534405.5:c.734A= ENSP00000434353.1:p.Tyr245=
NM_000543.4:c.734A= NP_000534.3:p.Tyr245=
NM_001007593.2:c.731A= NP_001007594.2:p.Tyr244=
XM_005253075.3:c.734A= XP_005253132.1:p.Tyr245=
XM_011520303.1:c.734A= XP_011518605.1:p.Tyr245=
XM_011520304.1:c.734A= XP_011518606.1:p.Tyr245=
XR_930886.1:n.1032A=
NM_001318087.1:c.734A= NP_001305016.1:p.Tyr245=
NM_001318088.1:c.-228A= NP_001305017.1:n.-228A=
NM_001365135.1:c.734A= NP_001352064.1:p.Tyr245=
NR_027400.2:n.919A=
NR_134502.1:n.623+296A=
XM_011520304.2:c.734A= XP_011518606.1:p.Tyr245=
XR_001747940.2:n.859A=
XR_002957158.1:n.859A=
NM_000543.5:c.734A= MANE Select NP_000534.3:p.Tyr245=
NM_001007593.3:c.731A= NP_001007594.2:p.Tyr244=
NM_001318087.2:c.734A= NP_001305016.1:p.Tyr245=
NM_001318088.2:c.-228A= NP_001305017.1:n.-228A=
NM_001365135.2:c.734A= NP_001352064.1:p.Tyr245=
NR_027400.3:n.859A=
NR_134502.2:n.563+296A=