Canonical Allele Identifier: CA377824175
Community Standard Title: NM_001776.6(ENTPD1):c.1110A>T (p.Leu370Phe)
Gene: ENTPD1 HGNC NCBI
ENTPD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95860504A>T , CM000672.2:g.95860504A>T GRCh38
NC_000010.10:g.97620261A>T , CM000672.1:g.97620261A>T GRCh37
NC_000010.9:g.97610251A>T NCBI36
NG_042803.1:g.153726A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001776.6:c.1110A>T (ENTPD1) MANE Select NP_001767.3:p.Leu370Phe
ENST00000371205.5:c.1110A>T (ENTPD1) MANE Select ENSP00000360248.4:p.Leu370Phe
NM_001098175.1:c.1131A>T (ENTPD1) NP_001091645.1:p.Leu377Phe
NM_001098175.2:c.1131A>T (ENTPD1) NP_001091645.1:p.Leu377Phe
NM_001164178.1:c.1146A>T (ENTPD1) NP_001157650.1:p.Leu382Phe
NM_001164179.1:c.987A>T (ENTPD1) NP_001157651.1:p.Leu329Phe
NM_001164179.2:c.987A>T (ENTPD1) NP_001157651.1:p.Leu329Phe
NM_001164181.1:c.786A>T (ENTPD1) NP_001157653.1:p.Leu262Phe
NM_001164182.1:c.696A>T (ENTPD1) NP_001157654.1:p.Leu232Phe
NM_001164182.2:c.696A>T (ENTPD1) NP_001157654.1:p.Leu232Phe
NM_001164183.1:c.696A>T (ENTPD1) NP_001157655.1:p.Leu232Phe
NM_001164183.2:c.696A>T (ENTPD1) NP_001157655.1:p.Leu232Phe
NM_001312654.1:c.786A>T (ENTPD1) NP_001299583.1:p.Leu262Phe
NM_001320916.1:c.1146A>T (ENTPD1) NP_001307845.1:p.Leu382Phe
NM_001776.5:c.1110A>T (ENTPD1) NP_001767.3:p.Leu370Phe
NR_038444.1:n.440-13019T>A (ENTPD1-AS1)
ENST00000371205.4:c.1110A>T (ENTPD1) ENSP00000360248.4:p.Leu370Phe
ENST00000371207.8:c.1146A>T (ENTPD1) ENSP00000360250.3:p.Leu382Phe
ENST00000453258.6:c.1131A>T (ENTPD1) ENSP00000390955.2:p.Leu377Phe
ENST00000539125.6:c.696A>T ENSP00000440027.1:p.Leu232Phe
ENST00000543964.6:c.786A>T (ENTPD1) ENSP00000442968.1:p.Leu262Phe
ENST00000635076.1:c.*685A>T (ENTPD1) ENSP00000489250.1:n.*685A>T
ENST00000639992.1:c.*515A>T (ENTPD1) ENSP00000492183.1:n.*515A>T
XM_011540370.1:c.786A>T (ENTPD1) XP_011538672.1:p.Leu262Phe
XM_011540370.2:c.1167A>T (ENTPD1) XP_011538672.2:p.Leu389Phe
XM_011540371.1:c.1131A>T (ENTPD1) XP_011538673.1:p.Leu377Phe
XM_011540371.2:c.1131A>T (ENTPD1) XP_011538673.1:p.Leu377Phe
XM_011540372.1:c.786A>T (ENTPD1) XP_011538674.1:p.Leu262Phe
XM_011540372.2:c.1167A>T (ENTPD1) XP_011538674.2:p.Leu389Phe
XM_011540373.1:c.786A>T (ENTPD1) XP_011538675.1:p.Leu262Phe
XM_011540373.2:c.1167A>T (ENTPD1) XP_011538675.2:p.Leu389Phe
XM_011540374.1:c.786A>T (ENTPD1) XP_011538676.1:p.Leu262Phe
XM_011540374.3:c.1167A>T (ENTPD1) XP_011538676.2:p.Leu389Phe
XM_011540375.1:c.786A>T (ENTPD1) XP_011538677.1:p.Leu262Phe
XM_011540377.1:c.786A>T (ENTPD1) XP_011538679.1:p.Leu262Phe
XM_011540377.2:c.786A>T (ENTPD1) XP_011538679.1:p.Leu262Phe
XM_017016958.2:c.1110A>T (ENTPD1) XP_016872447.1:p.Leu370Phe
XM_017016959.1:c.696A>T (ENTPD1) XP_016872448.1:p.Leu232Phe
XM_017016960.1:c.786A>T (ENTPD1) XP_016872449.1:p.Leu262Phe
XM_017016961.1:c.696A>T (ENTPD1) XP_016872450.1:p.Leu232Phe