Canonical Allele Identifier: CA382617999

Gene: DLAT PIH1D2

Linked Data

• MyVariant Identifiers: chr11:g.111931768A>C (hg19) ; chr11:g.112061044A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061044A>C , CM000673.2:g.112061044A>C	GRCh38
NC_000011.9:g.111931768A>C , CM000673.1:g.111931768A>C	GRCh37
NC_000011.8:g.111436978A>C	NCBI36
NG_013342.1:g.41231A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1684A>C (DLAT)	ENSP00000518862.1:p.Thr562Pro
ENST00000280346.11:c.1684A>C (DLAT) MANE Select	ENSP00000280346.7:p.Thr562Pro
ENST00000527231.2:n.1731A>C (DLAT)
ENST00000531306.2:c.1303A>C (DLAT)	ENSP00000433432.2:p.Thr435Pro
ENST00000679368.1:c.*611A>C (DLAT)	ENSP00000505314.1:n.*611A>C
ENST00000679614.1:c.1081A>C (DLAT)	ENSP00000506007.1:p.Thr361Pro
ENST00000679815.1:c.*1117A>C (DLAT)	ENSP00000504880.1:n.*1117A>C
ENST00000679878.1:c.1651A>C (DLAT)	ENSP00000505567.1:p.Thr551Pro
ENST00000680010.1:c.*825A>C (DLAT)	ENSP00000505768.1:n.*825A>C
ENST00000680154.1:n.1015A>C (DLAT)
ENST00000680331.1:c.1405A>C (DLAT)	ENSP00000506707.1:p.Thr469Pro
ENST00000680411.1:c.1429A>C (DLAT)	ENSP00000505915.1:p.Thr477Pro
ENST00000681316.1:c.1678A>C (DLAT)	ENSP00000506560.1:p.Thr560Pro
ENST00000681328.1:c.1663A>C (DLAT)	ENSP00000506355.1:p.Thr555Pro
ENST00000681339.1:c.1576A>C (DLAT)	ENSP00000506167.1:p.Thr526Pro
ENST00000681638.1:c.*1037A>C (DLAT)	ENSP00000506090.1:n.*1037A>C
ENST00000280346.10:c.1684A>C (DLAT)	ENSP00000280346.6:p.Thr562Pro
ENST00000393051.5:c.1369A>C (DLAT)	ENSP00000376771.1:p.Thr457Pro
ENST00000527231.1:n.78A>C (DLAT)
ENST00000531306.1:c.1180A>C (DLAT)	ENSP00000433432.1:p.Thr394Pro
ENST00000533297.1:c.*1359A>C (DLAT)	ENSP00000435374.1:n.*1359A>C
NM_001931.4:c.1684A>C (DLAT)	NP_001922.2:p.Thr562Pro
XM_011542590.1:c.814-250T>G (PIH1D2)	XP_011540892.1:n.814-250T>G
XM_011542592.1:c.814-8357T>G (PIH1D2)	XP_011540894.1:n.814-8357T>G
XM_011542647.1:c.1576A>C (DLAT)	XP_011540949.1:p.Thr526Pro
XM_011542647.3:c.1576A>C (DLAT)	XP_011540949.1:p.Thr526Pro
XM_017017202.2:c.814-5264T>G (PIH1D2)	XP_016872691.1:n.814-5264T>G
XM_017017203.2:c.814-250T>G (PIH1D2)	XP_016872692.1:n.814-250T>G
XM_017017204.2:c.814-5293T>G (PIH1D2)	XP_016872693.1:n.814-5293T>G
XM_017017205.2:c.814-8357T>G (PIH1D2)	XP_016872694.1:n.814-8357T>G
NM_001372031.1:c.1702A>C (DLAT)	NP_001358960.1:p.Thr568Pro
NM_001372032.1:c.1678A>C (DLAT)	NP_001358961.1:p.Thr560Pro
NM_001372033.1:c.1663A>C (DLAT)	NP_001358962.1:p.Thr555Pro
NM_001372034.1:c.1651A>C (DLAT)	NP_001358963.1:p.Thr551Pro
NM_001372035.1:c.1576A>C (DLAT)	NP_001358964.1:p.Thr526Pro
NM_001372036.1:c.1558A>C (DLAT)	NP_001358965.1:p.Thr520Pro
NM_001372037.1:c.1516A>C (DLAT)	NP_001358966.1:p.Thr506Pro
NM_001372038.1:c.1405A>C (DLAT)	NP_001358967.1:p.Thr469Pro
NM_001372039.1:c.1369A>C (DLAT)	NP_001358968.1:p.Thr457Pro
NM_001372040.1:c.1303A>C (DLAT)	NP_001358969.1:p.Thr435Pro
NM_001372041.1:c.1261A>C (DLAT)	NP_001358970.1:p.Thr421Pro
NM_001372042.1:c.1222A>C (DLAT)	NP_001358971.1:p.Thr408Pro
NM_001931.5:c.1684A>C (DLAT) MANE Select	NP_001922.2:p.Thr562Pro
NR_164072.1:n.1561A>C (DLAT)