Canonical Allele Identifier: CA5621637
Community Standard Title: NM_001776.6(ENTPD1):c.1338C>T (p.Ser446=)
Gene: ENTPD1 HGNC NCBI
ENTPD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95866188C>T , CM000672.2:g.95866188C>T GRCh38
NC_000010.10:g.97625945C>T , CM000672.1:g.97625945C>T GRCh37
NC_000010.9:g.97615935C>T NCBI36
NG_042803.1:g.159410C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001776.6:c.1338C>T (ENTPD1) MANE Select NP_001767.3:p.Ser446=
ENST00000371205.5:c.1338C>T (ENTPD1) MANE Select ENSP00000360248.4:p.Ser446=
NM_001098175.1:c.1359C>T (ENTPD1) NP_001091645.1:p.Ser453=
NM_001098175.2:c.1359C>T (ENTPD1) NP_001091645.1:p.Ser453=
NM_001164178.1:c.1374C>T (ENTPD1) NP_001157650.1:p.Ser458=
NM_001164179.1:c.1215C>T (ENTPD1) NP_001157651.1:p.Ser405=
NM_001164179.2:c.1215C>T (ENTPD1) NP_001157651.1:p.Ser405=
NM_001164181.1:c.1014C>T (ENTPD1) NP_001157653.1:p.Ser338=
NM_001164182.1:c.924C>T (ENTPD1) NP_001157654.1:p.Ser308=
NM_001164182.2:c.924C>T (ENTPD1) NP_001157654.1:p.Ser308=
NM_001164183.1:c.924C>T (ENTPD1) NP_001157655.1:p.Ser308=
NM_001164183.2:c.924C>T (ENTPD1) NP_001157655.1:p.Ser308=
NM_001312654.1:c.1014C>T (ENTPD1) NP_001299583.1:p.Ser338=
NM_001320916.1:c.1362+1327C>T (ENTPD1) NP_001307845.1:n.1362+1327C>T
NM_001776.5:c.1338C>T (ENTPD1) NP_001767.3:p.Ser446=
NR_038444.1:n.439+10330G>A (ENTPD1-AS1)
ENST00000371205.4:c.1338C>T (ENTPD1) ENSP00000360248.4:p.Ser446=
ENST00000371207.8:c.1374C>T (ENTPD1) ENSP00000360250.3:p.Ser458=
ENST00000453258.6:c.1359C>T (ENTPD1) ENSP00000390955.2:p.Ser453=
ENST00000491114.1:c.173+1327C>T
ENST00000539125.6:c.924C>T ENSP00000440027.1:p.Ser308=
ENST00000543964.6:c.1014C>T (ENTPD1) ENSP00000442968.1:p.Ser338=
ENST00000635076.1:c.*913C>T (ENTPD1) ENSP00000489250.1:n.*913C>T
ENST00000639992.1:c.*743C>T (ENTPD1) ENSP00000492183.1:n.*743C>T
XM_011540370.1:c.1014C>T (ENTPD1) XP_011538672.1:p.Ser338=
XM_011540370.2:c.1395C>T (ENTPD1) XP_011538672.2:p.Ser465=
XM_011540371.1:c.1359C>T (ENTPD1) XP_011538673.1:p.Ser453=
XM_011540371.2:c.1359C>T (ENTPD1) XP_011538673.1:p.Ser453=
XM_011540372.1:c.1002+1327C>T (ENTPD1) XP_011538674.1:n.1002+1327C>T
XM_011540372.2:c.1383+1327C>T (ENTPD1) XP_011538674.2:n.1383+1327C>T
XM_011540373.1:c.1034C>T (ENTPD1) XP_011538675.1:p.Ala345Val
XM_011540373.2:c.1415C>T (ENTPD1) XP_011538675.2:p.Ala472Val
XM_011540375.1:c.1002+1327C>T (ENTPD1) XP_011538677.1:n.1002+1327C>T
XM_011540377.1:c.1014C>T (ENTPD1) XP_011538679.1:p.Ser338=
XM_011540377.2:c.1014C>T (ENTPD1) XP_011538679.1:p.Ser338=
XM_017016958.2:c.1326+1327C>T (ENTPD1) XP_016872447.1:n.1326+1327C>T
XM_017016959.1:c.924C>T (ENTPD1) XP_016872448.1:p.Ser308=
XM_017016960.1:c.1002+1327C>T (ENTPD1) XP_016872449.1:n.1002+1327C>T
XM_017016961.1:c.912+1327C>T (ENTPD1) XP_016872450.1:n.912+1327C>T