Canonical Allele Identifier: CA5621501
Community Standard Title: NM_001776.6(ENTPD1):c.920T>A (p.Met307Lys)
Gene: ENTPD1 HGNC NCBI
ENTPD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95847552T>A , CM000672.2:g.95847552T>A GRCh38
NC_000010.10:g.97607309T>A , CM000672.1:g.97607309T>A GRCh37
NC_000010.9:g.97597299T>A NCBI36
NG_042803.1:g.140774T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001776.6:c.920T>A (ENTPD1) MANE Select NP_001767.3:p.Met307Lys
ENST00000371205.5:c.920T>A (ENTPD1) MANE Select ENSP00000360248.4:p.Met307Lys
NM_001098175.1:c.941T>A (ENTPD1) NP_001091645.1:p.Met314Lys
NM_001098175.2:c.941T>A (ENTPD1) NP_001091645.1:p.Met314Lys
NM_001164178.1:c.956T>A (ENTPD1) NP_001157650.1:p.Met319Lys
NM_001164179.1:c.814-17T>A (ENTPD1) NP_001157651.1:n.814-17T>A
NM_001164179.2:c.814-17T>A (ENTPD1) NP_001157651.1:n.814-17T>A
NM_001164181.1:c.596T>A (ENTPD1) NP_001157653.1:p.Met199Lys
NM_001164182.1:c.506T>A (ENTPD1) NP_001157654.1:p.Met169Lys
NM_001164182.2:c.506T>A (ENTPD1) NP_001157654.1:p.Met169Lys
NM_001164183.1:c.506T>A (ENTPD1) NP_001157655.1:p.Met169Lys
NM_001164183.2:c.506T>A (ENTPD1) NP_001157655.1:p.Met169Lys
NM_001312654.1:c.596T>A (ENTPD1) NP_001299583.1:p.Met199Lys
NM_001320916.1:c.956T>A (ENTPD1) NP_001307845.1:p.Met319Lys
NM_001776.5:c.920T>A (ENTPD1) NP_001767.3:p.Met307Lys
NR_038444.1:n.440-67A>T (ENTPD1-AS1)
ENST00000371205.4:c.920T>A (ENTPD1) ENSP00000360248.4:p.Met307Lys
ENST00000371207.8:c.956T>A (ENTPD1) ENSP00000360250.3:p.Met319Lys
ENST00000453258.6:c.941T>A (ENTPD1) ENSP00000390955.2:p.Met314Lys
ENST00000539125.6:c.506T>A ENSP00000440027.1:p.Met169Lys
ENST00000543964.6:c.596T>A (ENTPD1) ENSP00000442968.1:p.Met199Lys
ENST00000635076.1:c.*495T>A (ENTPD1) ENSP00000489250.1:n.*495T>A
ENST00000639992.1:c.*325T>A (ENTPD1) ENSP00000492183.1:n.*325T>A
XM_011540370.1:c.596T>A (ENTPD1) XP_011538672.1:p.Met199Lys
XM_011540370.2:c.977T>A (ENTPD1) XP_011538672.2:p.Met326Lys
XM_011540371.1:c.941T>A (ENTPD1) XP_011538673.1:p.Met314Lys
XM_011540371.2:c.941T>A (ENTPD1) XP_011538673.1:p.Met314Lys
XM_011540372.1:c.596T>A (ENTPD1) XP_011538674.1:p.Met199Lys
XM_011540372.2:c.977T>A (ENTPD1) XP_011538674.2:p.Met326Lys
XM_011540373.1:c.596T>A (ENTPD1) XP_011538675.1:p.Met199Lys
XM_011540373.2:c.977T>A (ENTPD1) XP_011538675.2:p.Met326Lys
XM_011540374.1:c.596T>A (ENTPD1) XP_011538676.1:p.Met199Lys
XM_011540374.3:c.977T>A (ENTPD1) XP_011538676.2:p.Met326Lys
XM_011540375.1:c.596T>A (ENTPD1) XP_011538677.1:p.Met199Lys
XM_011540376.1:c.596T>A (ENTPD1) XP_011538678.1:p.Met199Lys
XM_011540376.2:c.977T>A (ENTPD1) XP_011538678.2:p.Met326Lys
XM_011540377.1:c.596T>A (ENTPD1) XP_011538679.1:p.Met199Lys
XM_011540377.2:c.596T>A (ENTPD1) XP_011538679.1:p.Met199Lys
XM_017016958.2:c.920T>A (ENTPD1) XP_016872447.1:p.Met307Lys
XM_017016959.1:c.506T>A (ENTPD1) XP_016872448.1:p.Met169Lys
XM_017016960.1:c.596T>A (ENTPD1) XP_016872449.1:p.Met199Lys
XM_017016961.1:c.506T>A (ENTPD1) XP_016872450.1:p.Met169Lys