Canonical Allele Identifier: CA476791671

Linked Data

MyVariant Identifiers: chr11:g.111931821T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112061097T>A , CM000673.2:g.112061097T>A GRCh38
NC_000011.9:g.111931821T>A , CM000673.1:g.111931821T>A GRCh37
NC_000011.8:g.111437031T>A NCBI36
NG_013342.1:g.41284T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713569.1:c.1737T>A (DLAT) ENSP00000518862.1:p.Ile579=
ENST00000280346.11:c.1737T>A (DLAT) MANE Select ENSP00000280346.7:p.Ile579=
ENST00000527231.2:n.1784T>A (DLAT)
ENST00000531306.2:c.1356T>A (DLAT) ENSP00000433432.2:p.Ile452=
ENST00000679368.1:c.*664T>A (DLAT) ENSP00000505314.1:n.*664T>A
ENST00000679614.1:c.1134T>A (DLAT) ENSP00000506007.1:p.Ile378=
ENST00000679815.1:c.*1170T>A (DLAT) ENSP00000504880.1:n.*1170T>A
ENST00000679878.1:c.1704T>A (DLAT) ENSP00000505567.1:p.Ile568=
ENST00000680010.1:c.*878T>A (DLAT) ENSP00000505768.1:n.*878T>A
ENST00000680154.1:n.1068T>A (DLAT)
ENST00000680331.1:c.1458T>A (DLAT) ENSP00000506707.1:p.Ile486=
ENST00000680411.1:c.1482T>A (DLAT) ENSP00000505915.1:p.Ile494=
ENST00000681316.1:c.1731T>A (DLAT) ENSP00000506560.1:p.Ile577=
ENST00000681328.1:c.1716T>A (DLAT) ENSP00000506355.1:p.Ile572=
ENST00000681339.1:c.1629T>A (DLAT) ENSP00000506167.1:p.Ile543=
ENST00000681638.1:c.*1090T>A (DLAT) ENSP00000506090.1:n.*1090T>A
ENST00000280346.10:c.1737T>A (DLAT) ENSP00000280346.6:p.Ile579=
ENST00000393051.5:c.1422T>A (DLAT) ENSP00000376771.1:p.Ile474=
ENST00000527231.1:n.131T>A (DLAT)
ENST00000531306.1:c.1233T>A (DLAT) ENSP00000433432.1:p.Ile411=
ENST00000533297.1:c.*1412T>A (DLAT) ENSP00000435374.1:n.*1412T>A
NM_001931.4:c.1737T>A (DLAT) NP_001922.2:p.Ile579=
XM_011542590.1:c.814-303A>T (PIH1D2) XP_011540892.1:n.814-303A>T
XM_011542592.1:c.814-8410A>T (PIH1D2) XP_011540894.1:n.814-8410A>T
XM_011542647.1:c.1629T>A (DLAT) XP_011540949.1:p.Ile543=
XM_011542647.3:c.1629T>A (DLAT) XP_011540949.1:p.Ile543=
XM_017017202.2:c.814-5317A>T (PIH1D2) XP_016872691.1:n.814-5317A>T
XM_017017203.2:c.814-303A>T (PIH1D2) XP_016872692.1:n.814-303A>T
XM_017017204.2:c.814-5346A>T (PIH1D2) XP_016872693.1:n.814-5346A>T
XM_017017205.2:c.814-8410A>T (PIH1D2) XP_016872694.1:n.814-8410A>T
NM_001372031.1:c.1755T>A (DLAT) NP_001358960.1:p.Ile585=
NM_001372032.1:c.1731T>A (DLAT) NP_001358961.1:p.Ile577=
NM_001372033.1:c.1716T>A (DLAT) NP_001358962.1:p.Ile572=
NM_001372034.1:c.1704T>A (DLAT) NP_001358963.1:p.Ile568=
NM_001372035.1:c.1629T>A (DLAT) NP_001358964.1:p.Ile543=
NM_001372036.1:c.1611T>A (DLAT) NP_001358965.1:p.Ile537=
NM_001372037.1:c.1569T>A (DLAT) NP_001358966.1:p.Ile523=
NM_001372038.1:c.1458T>A (DLAT) NP_001358967.1:p.Ile486=
NM_001372039.1:c.1422T>A (DLAT) NP_001358968.1:p.Ile474=
NM_001372040.1:c.1356T>A (DLAT) NP_001358969.1:p.Ile452=
NM_001372041.1:c.1314T>A (DLAT) NP_001358970.1:p.Ile438=
NM_001372042.1:c.1275T>A (DLAT) NP_001358971.1:p.Ile425=
NM_001931.5:c.1737T>A (DLAT) MANE Select NP_001922.2:p.Ile579=
NR_164072.1:n.1614T>A (DLAT)