Canonical Allele Identifier: CA1869943
Community Standard Title: NM_017951.5(SMPD4):c.1097+27A>G
Gene: SMPD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130157224T>C , CM000664.2:g.130157224T>C GRCh38
NC_000002.11:g.130914797T>C , CM000664.1:g.130914797T>C GRCh37
NC_000002.10:g.130631267T>C NCBI36
NG_053070.1:g.30527A>G

Transcript Alleles

HGVS Amino-acid Change
NM_017951.5:c.1097+27A>G MANE Select NP_060421.3:n.1097+27A>G
ENST00000680298.1:c.1097+27A>G MANE Select ENSP00000506463.1:n.1097+27A>G
NM_001171083.2:c.908+27A>G NP_001164554.1:n.908+27A>G
NM_017751.4:c.1127+27A>G NP_060221.2:n.1127+27A>G
NM_017951.4:c.1214+27A>G NP_060421.2:n.1214+27A>G
NR_033230.2:n.2363+27A>G
NR_033231.2:n.1227+27A>G
NR_033231.3:n.1072+27A>G
NR_033232.2:n.1207+27A>G
NR_033232.3:n.1052+27A>G
ENST00000351288.10:c.1127+27A>G ENSP00000259217.8:n.1127+27A>G
ENST00000409031.5:c.1214+27A>G ENSP00000386531.1:n.1214+27A>G
ENST00000412570.5:c.*784+27A>G ENSP00000403002.1:n.*784+27A>G
ENST00000430682.5:c.350-1089A>G
ENST00000431183.6:c.908+27A>G ENSP00000405187.2:n.908+27A>G
ENST00000433118.5:c.*515+27A>G ENSP00000397278.1:n.*515+27A>G
ENST00000435455.5:c.206+27A>G ENSP00000393791.1:n.206+27A>G
ENST00000435455.6:c.535+27A>G
ENST00000439886.5:c.700+27A>G
ENST00000451542.5:c.458+27A>G ENSP00000405363.1:n.458+27A>G
ENST00000454468.5:c.*801+27A>G ENSP00000407591.1:n.*801+27A>G
ENST00000455548.2:n.366+27A>G
ENST00000457039.6:c.5+27A>G ENSP00000397078.2:n.5+27A>G
ENST00000473720.5:n.356-549A>G
ENST00000482171.5:n.703+27A>G
ENST00000680196.1:c.*94+27A>G ENSP00000505151.1:n.*94+27A>G
ENST00000680401.1:c.-101+27A>G ENSP00000506367.1:n.-101+27A>G
ENST00000680679.1:c.1010+27A>G ENSP00000505716.1:n.1010+27A>G
ENST00000680810.1:c.1097+27A>G ENSP00000505271.1:n.1097+27A>G
ENST00000680987.1:c.*204+27A>G ENSP00000506346.1:n.*204+27A>G
XM_011511443.1:c.1448+27A>G XP_011509745.1:n.1448+27A>G
XM_011511443.2:c.1448+27A>G XP_011509745.1:n.1448+27A>G
XM_011511444.1:c.1361+27A>G XP_011509746.1:n.1361+27A>G
XM_011511444.3:c.1361+27A>G XP_011509746.1:n.1361+27A>G
XM_011511445.1:c.821+27A>G XP_011509747.1:n.821+27A>G
XM_011511445.2:c.821+27A>G XP_011509747.1:n.821+27A>G
XM_017004448.2:c.437+27A>G XP_016859937.1:n.437+27A>G
XM_017004449.2:c.-101+27A>G XP_016859938.1:n.-101+27A>G
XM_024452978.1:c.437+27A>G XP_024308746.1:n.437+27A>G