Canonical Allele Identifier: CA382618232

Gene: DLAT PIH1D2

Linked Data

• MyVariant Identifiers: chr11:g.111931810T>C (hg19) ; chr11:g.112061086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061086T>C , CM000673.2:g.112061086T>C	GRCh38
NC_000011.9:g.111931810T>C , CM000673.1:g.111931810T>C	GRCh37
NC_000011.8:g.111437020T>C	NCBI36
NG_013342.1:g.41273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1726T>C (DLAT)	ENSP00000518862.1:p.Phe576Leu
ENST00000280346.11:c.1726T>C (DLAT) MANE Select	ENSP00000280346.7:p.Phe576Leu
ENST00000527231.2:n.1773T>C (DLAT)
ENST00000531306.2:c.1345T>C (DLAT)	ENSP00000433432.2:p.Phe449Leu
ENST00000679368.1:c.*653T>C (DLAT)	ENSP00000505314.1:n.*653T>C
ENST00000679614.1:c.1123T>C (DLAT)	ENSP00000506007.1:p.Phe375Leu
ENST00000679815.1:c.*1159T>C (DLAT)	ENSP00000504880.1:n.*1159T>C
ENST00000679878.1:c.1693T>C (DLAT)	ENSP00000505567.1:p.Phe565Leu
ENST00000680010.1:c.*867T>C (DLAT)	ENSP00000505768.1:n.*867T>C
ENST00000680154.1:n.1057T>C (DLAT)
ENST00000680331.1:c.1447T>C (DLAT)	ENSP00000506707.1:p.Phe483Leu
ENST00000680411.1:c.1471T>C (DLAT)	ENSP00000505915.1:p.Phe491Leu
ENST00000681316.1:c.1720T>C (DLAT)	ENSP00000506560.1:p.Phe574Leu
ENST00000681328.1:c.1705T>C (DLAT)	ENSP00000506355.1:p.Phe569Leu
ENST00000681339.1:c.1618T>C (DLAT)	ENSP00000506167.1:p.Phe540Leu
ENST00000681638.1:c.*1079T>C (DLAT)	ENSP00000506090.1:n.*1079T>C
ENST00000280346.10:c.1726T>C (DLAT)	ENSP00000280346.6:p.Phe576Leu
ENST00000393051.5:c.1411T>C (DLAT)	ENSP00000376771.1:p.Phe471Leu
ENST00000527231.1:n.120T>C (DLAT)
ENST00000531306.1:c.1222T>C (DLAT)	ENSP00000433432.1:p.Phe408Leu
ENST00000533297.1:c.*1401T>C (DLAT)	ENSP00000435374.1:n.*1401T>C
NM_001931.4:c.1726T>C (DLAT)	NP_001922.2:p.Phe576Leu
XM_011542590.1:c.814-292A>G (PIH1D2)	XP_011540892.1:n.814-292A>G
XM_011542592.1:c.814-8399A>G (PIH1D2)	XP_011540894.1:n.814-8399A>G
XM_011542647.1:c.1618T>C (DLAT)	XP_011540949.1:p.Phe540Leu
XM_011542647.3:c.1618T>C (DLAT)	XP_011540949.1:p.Phe540Leu
XM_017017202.2:c.814-5306A>G (PIH1D2)	XP_016872691.1:n.814-5306A>G
XM_017017203.2:c.814-292A>G (PIH1D2)	XP_016872692.1:n.814-292A>G
XM_017017204.2:c.814-5335A>G (PIH1D2)	XP_016872693.1:n.814-5335A>G
XM_017017205.2:c.814-8399A>G (PIH1D2)	XP_016872694.1:n.814-8399A>G
NM_001372031.1:c.1744T>C (DLAT)	NP_001358960.1:p.Phe582Leu
NM_001372032.1:c.1720T>C (DLAT)	NP_001358961.1:p.Phe574Leu
NM_001372033.1:c.1705T>C (DLAT)	NP_001358962.1:p.Phe569Leu
NM_001372034.1:c.1693T>C (DLAT)	NP_001358963.1:p.Phe565Leu
NM_001372035.1:c.1618T>C (DLAT)	NP_001358964.1:p.Phe540Leu
NM_001372036.1:c.1600T>C (DLAT)	NP_001358965.1:p.Phe534Leu
NM_001372037.1:c.1558T>C (DLAT)	NP_001358966.1:p.Phe520Leu
NM_001372038.1:c.1447T>C (DLAT)	NP_001358967.1:p.Phe483Leu
NM_001372039.1:c.1411T>C (DLAT)	NP_001358968.1:p.Phe471Leu
NM_001372040.1:c.1345T>C (DLAT)	NP_001358969.1:p.Phe449Leu
NM_001372041.1:c.1303T>C (DLAT)	NP_001358970.1:p.Phe435Leu
NM_001372042.1:c.1264T>C (DLAT)	NP_001358971.1:p.Phe422Leu
NM_001931.5:c.1726T>C (DLAT) MANE Select	NP_001922.2:p.Phe576Leu
NR_164072.1:n.1603T>C (DLAT)