Canonical Allele Identifier: CA382618168

Gene: DLAT PIH1D2

Linked Data

• dbSNP Id: rs1864586489
• MyVariant Identifiers: chr11:g.111931795T>G (hg19) ; chr11:g.112061071T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061071T>G , CM000673.2:g.112061071T>G	GRCh38
NC_000011.9:g.111931795T>G , CM000673.1:g.111931795T>G	GRCh37
NC_000011.8:g.111437005T>G	NCBI36
NG_013342.1:g.41258T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1711T>G (DLAT)	ENSP00000518862.1:p.Phe571Val
ENST00000280346.11:c.1711T>G (DLAT) MANE Select	ENSP00000280346.7:p.Phe571Val
ENST00000527231.2:n.1758T>G (DLAT)
ENST00000531306.2:c.1330T>G (DLAT)	ENSP00000433432.2:p.Phe444Val
ENST00000679368.1:c.*638T>G (DLAT)	ENSP00000505314.1:n.*638T>G
ENST00000679614.1:c.1108T>G (DLAT)	ENSP00000506007.1:p.Phe370Val
ENST00000679815.1:c.*1144T>G (DLAT)	ENSP00000504880.1:n.*1144T>G
ENST00000679878.1:c.1678T>G (DLAT)	ENSP00000505567.1:p.Phe560Val
ENST00000680010.1:c.*852T>G (DLAT)	ENSP00000505768.1:n.*852T>G
ENST00000680154.1:n.1042T>G (DLAT)
ENST00000680331.1:c.1432T>G (DLAT)	ENSP00000506707.1:p.Phe478Val
ENST00000680411.1:c.1456T>G (DLAT)	ENSP00000505915.1:p.Phe486Val
ENST00000681316.1:c.1705T>G (DLAT)	ENSP00000506560.1:p.Phe569Val
ENST00000681328.1:c.1690T>G (DLAT)	ENSP00000506355.1:p.Phe564Val
ENST00000681339.1:c.1603T>G (DLAT)	ENSP00000506167.1:p.Phe535Val
ENST00000681638.1:c.*1064T>G (DLAT)	ENSP00000506090.1:n.*1064T>G
ENST00000280346.10:c.1711T>G (DLAT)	ENSP00000280346.6:p.Phe571Val
ENST00000393051.5:c.1396T>G (DLAT)	ENSP00000376771.1:p.Phe466Val
ENST00000527231.1:n.105T>G (DLAT)
ENST00000531306.1:c.1207T>G (DLAT)	ENSP00000433432.1:p.Phe403Val
ENST00000533297.1:c.*1386T>G (DLAT)	ENSP00000435374.1:n.*1386T>G
NM_001931.4:c.1711T>G (DLAT)	NP_001922.2:p.Phe571Val
XM_011542590.1:c.814-277A>C (PIH1D2)	XP_011540892.1:n.814-277A>C
XM_011542592.1:c.814-8384A>C (PIH1D2)	XP_011540894.1:n.814-8384A>C
XM_011542647.1:c.1603T>G (DLAT)	XP_011540949.1:p.Phe535Val
XM_011542647.3:c.1603T>G (DLAT)	XP_011540949.1:p.Phe535Val
XM_017017202.2:c.814-5291A>C (PIH1D2)	XP_016872691.1:n.814-5291A>C
XM_017017203.2:c.814-277A>C (PIH1D2)	XP_016872692.1:n.814-277A>C
XM_017017204.2:c.814-5320A>C (PIH1D2)	XP_016872693.1:n.814-5320A>C
XM_017017205.2:c.814-8384A>C (PIH1D2)	XP_016872694.1:n.814-8384A>C
NM_001372031.1:c.1729T>G (DLAT)	NP_001358960.1:p.Phe577Val
NM_001372032.1:c.1705T>G (DLAT)	NP_001358961.1:p.Phe569Val
NM_001372033.1:c.1690T>G (DLAT)	NP_001358962.1:p.Phe564Val
NM_001372034.1:c.1678T>G (DLAT)	NP_001358963.1:p.Phe560Val
NM_001372035.1:c.1603T>G (DLAT)	NP_001358964.1:p.Phe535Val
NM_001372036.1:c.1585T>G (DLAT)	NP_001358965.1:p.Phe529Val
NM_001372037.1:c.1543T>G (DLAT)	NP_001358966.1:p.Phe515Val
NM_001372038.1:c.1432T>G (DLAT)	NP_001358967.1:p.Phe478Val
NM_001372039.1:c.1396T>G (DLAT)	NP_001358968.1:p.Phe466Val
NM_001372040.1:c.1330T>G (DLAT)	NP_001358969.1:p.Phe444Val
NM_001372041.1:c.1288T>G (DLAT)	NP_001358970.1:p.Phe430Val
NM_001372042.1:c.1249T>G (DLAT)	NP_001358971.1:p.Phe417Val
NM_001931.5:c.1711T>G (DLAT) MANE Select	NP_001922.2:p.Phe571Val
NR_164072.1:n.1588T>G (DLAT)