Canonical Allele Identifier: CA5621485
Community Standard Title: NM_001776.6(ENTPD1):c.834C>T (p.Leu278=)
Gene: ENTPD1 HGNC NCBI
ENTPD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95847466C>T , CM000672.2:g.95847466C>T GRCh38
NC_000010.10:g.97607223C>T , CM000672.1:g.97607223C>T GRCh37
NC_000010.9:g.97597213C>T NCBI36
NG_042803.1:g.140688C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001776.6:c.834C>T (ENTPD1) MANE Select NP_001767.3:p.Leu278=
ENST00000371205.5:c.834C>T (ENTPD1) MANE Select ENSP00000360248.4:p.Leu278=
NM_001098175.1:c.855C>T (ENTPD1) NP_001091645.1:p.Leu285=
NM_001098175.2:c.855C>T (ENTPD1) NP_001091645.1:p.Leu285=
NM_001164178.1:c.870C>T (ENTPD1) NP_001157650.1:p.Leu290=
NM_001164179.1:c.814-103C>T (ENTPD1) NP_001157651.1:n.814-103C>T
NM_001164179.2:c.814-103C>T (ENTPD1) NP_001157651.1:n.814-103C>T
NM_001164181.1:c.510C>T (ENTPD1) NP_001157653.1:p.Leu170=
NM_001164182.1:c.420C>T (ENTPD1) NP_001157654.1:p.Leu140=
NM_001164182.2:c.420C>T (ENTPD1) NP_001157654.1:p.Leu140=
NM_001164183.1:c.420C>T (ENTPD1) NP_001157655.1:p.Leu140=
NM_001164183.2:c.420C>T (ENTPD1) NP_001157655.1:p.Leu140=
NM_001312654.1:c.510C>T (ENTPD1) NP_001299583.1:p.Leu170=
NM_001320916.1:c.870C>T (ENTPD1) NP_001307845.1:p.Leu290=
NM_001776.5:c.834C>T (ENTPD1) NP_001767.3:p.Leu278=
NR_038444.1:n.459G>A (ENTPD1-AS1)
ENST00000371205.4:c.834C>T (ENTPD1) ENSP00000360248.4:p.Leu278=
ENST00000371207.8:c.870C>T (ENTPD1) ENSP00000360250.3:p.Leu290=
ENST00000453258.6:c.855C>T (ENTPD1) ENSP00000390955.2:p.Leu285=
ENST00000483213.6:c.*239C>T (ENTPD1) ENSP00000489333.1:n.*239C>T
ENST00000539125.6:c.420C>T ENSP00000440027.1:p.Leu140=
ENST00000543964.6:c.510C>T (ENTPD1) ENSP00000442968.1:p.Leu170=
ENST00000635076.1:c.*409C>T (ENTPD1) ENSP00000489250.1:n.*409C>T
ENST00000639992.1:c.*239C>T (ENTPD1) ENSP00000492183.1:n.*239C>T
XM_011540370.1:c.510C>T (ENTPD1) XP_011538672.1:p.Leu170=
XM_011540370.2:c.891C>T (ENTPD1) XP_011538672.2:p.Leu297=
XM_011540371.1:c.855C>T (ENTPD1) XP_011538673.1:p.Leu285=
XM_011540371.2:c.855C>T (ENTPD1) XP_011538673.1:p.Leu285=
XM_011540372.1:c.510C>T (ENTPD1) XP_011538674.1:p.Leu170=
XM_011540372.2:c.891C>T (ENTPD1) XP_011538674.2:p.Leu297=
XM_011540373.1:c.510C>T (ENTPD1) XP_011538675.1:p.Leu170=
XM_011540373.2:c.891C>T (ENTPD1) XP_011538675.2:p.Leu297=
XM_011540374.1:c.510C>T (ENTPD1) XP_011538676.1:p.Leu170=
XM_011540374.3:c.891C>T (ENTPD1) XP_011538676.2:p.Leu297=
XM_011540375.1:c.510C>T (ENTPD1) XP_011538677.1:p.Leu170=
XM_011540376.1:c.510C>T (ENTPD1) XP_011538678.1:p.Leu170=
XM_011540376.2:c.891C>T (ENTPD1) XP_011538678.2:p.Leu297=
XM_011540377.1:c.510C>T (ENTPD1) XP_011538679.1:p.Leu170=
XM_011540377.2:c.510C>T (ENTPD1) XP_011538679.1:p.Leu170=
XM_017016958.2:c.834C>T (ENTPD1) XP_016872447.1:p.Leu278=
XM_017016959.1:c.420C>T (ENTPD1) XP_016872448.1:p.Leu140=
XM_017016960.1:c.510C>T (ENTPD1) XP_016872449.1:p.Leu170=
XM_017016961.1:c.420C>T (ENTPD1) XP_016872450.1:p.Leu140=