Canonical Allele Identifier: CA382618076

Gene: DLAT PIH1D2

Linked Data

• MyVariant Identifiers: chr11:g.111931781C>A (hg19) ; chr11:g.112061057C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061057C>A , CM000673.2:g.112061057C>A	GRCh38
NC_000011.9:g.111931781C>A , CM000673.1:g.111931781C>A	GRCh37
NC_000011.8:g.111436991C>A	NCBI36
NG_013342.1:g.41244C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1697C>A (DLAT)	ENSP00000518862.1:p.Ser566Tyr
ENST00000280346.11:c.1697C>A (DLAT) MANE Select	ENSP00000280346.7:p.Ser566Tyr
ENST00000527231.2:n.1744C>A (DLAT)
ENST00000531306.2:c.1316C>A (DLAT)	ENSP00000433432.2:p.Ser439Tyr
ENST00000679368.1:c.*624C>A (DLAT)	ENSP00000505314.1:n.*624C>A
ENST00000679614.1:c.1094C>A (DLAT)	ENSP00000506007.1:p.Ser365Tyr
ENST00000679815.1:c.*1130C>A (DLAT)	ENSP00000504880.1:n.*1130C>A
ENST00000679878.1:c.1664C>A (DLAT)	ENSP00000505567.1:p.Ser555Tyr
ENST00000680010.1:c.*838C>A (DLAT)	ENSP00000505768.1:n.*838C>A
ENST00000680154.1:n.1028C>A (DLAT)
ENST00000680331.1:c.1418C>A (DLAT)	ENSP00000506707.1:p.Ser473Tyr
ENST00000680411.1:c.1442C>A (DLAT)	ENSP00000505915.1:p.Ser481Tyr
ENST00000681316.1:c.1691C>A (DLAT)	ENSP00000506560.1:p.Ser564Tyr
ENST00000681328.1:c.1676C>A (DLAT)	ENSP00000506355.1:p.Ser559Tyr
ENST00000681339.1:c.1589C>A (DLAT)	ENSP00000506167.1:p.Ser530Tyr
ENST00000681638.1:c.*1050C>A (DLAT)	ENSP00000506090.1:n.*1050C>A
ENST00000280346.10:c.1697C>A (DLAT)	ENSP00000280346.6:p.Ser566Tyr
ENST00000393051.5:c.1382C>A (DLAT)	ENSP00000376771.1:p.Ser461Tyr
ENST00000527231.1:n.91C>A (DLAT)
ENST00000531306.1:c.1193C>A (DLAT)	ENSP00000433432.1:p.Ser398Tyr
ENST00000533297.1:c.*1372C>A (DLAT)	ENSP00000435374.1:n.*1372C>A
NM_001931.4:c.1697C>A (DLAT)	NP_001922.2:p.Ser566Tyr
XM_011542590.1:c.814-263G>T (PIH1D2)	XP_011540892.1:n.814-263G>T
XM_011542592.1:c.814-8370G>T (PIH1D2)	XP_011540894.1:n.814-8370G>T
XM_011542647.1:c.1589C>A (DLAT)	XP_011540949.1:p.Ser530Tyr
XM_011542647.3:c.1589C>A (DLAT)	XP_011540949.1:p.Ser530Tyr
XM_017017202.2:c.814-5277G>T (PIH1D2)	XP_016872691.1:n.814-5277G>T
XM_017017203.2:c.814-263G>T (PIH1D2)	XP_016872692.1:n.814-263G>T
XM_017017204.2:c.814-5306G>T (PIH1D2)	XP_016872693.1:n.814-5306G>T
XM_017017205.2:c.814-8370G>T (PIH1D2)	XP_016872694.1:n.814-8370G>T
NM_001372031.1:c.1715C>A (DLAT)	NP_001358960.1:p.Ser572Tyr
NM_001372032.1:c.1691C>A (DLAT)	NP_001358961.1:p.Ser564Tyr
NM_001372033.1:c.1676C>A (DLAT)	NP_001358962.1:p.Ser559Tyr
NM_001372034.1:c.1664C>A (DLAT)	NP_001358963.1:p.Ser555Tyr
NM_001372035.1:c.1589C>A (DLAT)	NP_001358964.1:p.Ser530Tyr
NM_001372036.1:c.1571C>A (DLAT)	NP_001358965.1:p.Ser524Tyr
NM_001372037.1:c.1529C>A (DLAT)	NP_001358966.1:p.Ser510Tyr
NM_001372038.1:c.1418C>A (DLAT)	NP_001358967.1:p.Ser473Tyr
NM_001372039.1:c.1382C>A (DLAT)	NP_001358968.1:p.Ser461Tyr
NM_001372040.1:c.1316C>A (DLAT)	NP_001358969.1:p.Ser439Tyr
NM_001372041.1:c.1274C>A (DLAT)	NP_001358970.1:p.Ser425Tyr
NM_001372042.1:c.1235C>A (DLAT)	NP_001358971.1:p.Ser412Tyr
NM_001931.5:c.1697C>A (DLAT) MANE Select	NP_001922.2:p.Ser566Tyr
NR_164072.1:n.1574C>A (DLAT)