Canonical Allele Identifier: CA382618187

Gene: DLAT PIH1D2

Linked Data

• MyVariant Identifiers: chr11:g.111931801A>T (hg19) ; chr11:g.112061077A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061077A>T , CM000673.2:g.112061077A>T	GRCh38
NC_000011.9:g.111931801A>T , CM000673.1:g.111931801A>T	GRCh37
NC_000011.8:g.111437011A>T	NCBI36
NG_013342.1:g.41264A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1717A>T (DLAT)	ENSP00000518862.1:p.Ile573Phe
ENST00000280346.11:c.1717A>T (DLAT) MANE Select	ENSP00000280346.7:p.Ile573Phe
ENST00000527231.2:n.1764A>T (DLAT)
ENST00000531306.2:c.1336A>T (DLAT)	ENSP00000433432.2:p.Ile446Phe
ENST00000679368.1:c.*644A>T (DLAT)	ENSP00000505314.1:n.*644A>T
ENST00000679614.1:c.1114A>T (DLAT)	ENSP00000506007.1:p.Ile372Phe
ENST00000679815.1:c.*1150A>T (DLAT)	ENSP00000504880.1:n.*1150A>T
ENST00000679878.1:c.1684A>T (DLAT)	ENSP00000505567.1:p.Ile562Phe
ENST00000680010.1:c.*858A>T (DLAT)	ENSP00000505768.1:n.*858A>T
ENST00000680154.1:n.1048A>T (DLAT)
ENST00000680331.1:c.1438A>T (DLAT)	ENSP00000506707.1:p.Ile480Phe
ENST00000680411.1:c.1462A>T (DLAT)	ENSP00000505915.1:p.Ile488Phe
ENST00000681316.1:c.1711A>T (DLAT)	ENSP00000506560.1:p.Ile571Phe
ENST00000681328.1:c.1696A>T (DLAT)	ENSP00000506355.1:p.Ile566Phe
ENST00000681339.1:c.1609A>T (DLAT)	ENSP00000506167.1:p.Ile537Phe
ENST00000681638.1:c.*1070A>T (DLAT)	ENSP00000506090.1:n.*1070A>T
ENST00000280346.10:c.1717A>T (DLAT)	ENSP00000280346.6:p.Ile573Phe
ENST00000393051.5:c.1402A>T (DLAT)	ENSP00000376771.1:p.Ile468Phe
ENST00000527231.1:n.111A>T (DLAT)
ENST00000531306.1:c.1213A>T (DLAT)	ENSP00000433432.1:p.Ile405Phe
ENST00000533297.1:c.*1392A>T (DLAT)	ENSP00000435374.1:n.*1392A>T
NM_001931.4:c.1717A>T (DLAT)	NP_001922.2:p.Ile573Phe
XM_011542590.1:c.814-283T>A (PIH1D2)	XP_011540892.1:n.814-283T>A
XM_011542592.1:c.814-8390T>A (PIH1D2)	XP_011540894.1:n.814-8390T>A
XM_011542647.1:c.1609A>T (DLAT)	XP_011540949.1:p.Ile537Phe
XM_011542647.3:c.1609A>T (DLAT)	XP_011540949.1:p.Ile537Phe
XM_017017202.2:c.814-5297T>A (PIH1D2)	XP_016872691.1:n.814-5297T>A
XM_017017203.2:c.814-283T>A (PIH1D2)	XP_016872692.1:n.814-283T>A
XM_017017204.2:c.814-5326T>A (PIH1D2)	XP_016872693.1:n.814-5326T>A
XM_017017205.2:c.814-8390T>A (PIH1D2)	XP_016872694.1:n.814-8390T>A
NM_001372031.1:c.1735A>T (DLAT)	NP_001358960.1:p.Ile579Phe
NM_001372032.1:c.1711A>T (DLAT)	NP_001358961.1:p.Ile571Phe
NM_001372033.1:c.1696A>T (DLAT)	NP_001358962.1:p.Ile566Phe
NM_001372034.1:c.1684A>T (DLAT)	NP_001358963.1:p.Ile562Phe
NM_001372035.1:c.1609A>T (DLAT)	NP_001358964.1:p.Ile537Phe
NM_001372036.1:c.1591A>T (DLAT)	NP_001358965.1:p.Ile531Phe
NM_001372037.1:c.1549A>T (DLAT)	NP_001358966.1:p.Ile517Phe
NM_001372038.1:c.1438A>T (DLAT)	NP_001358967.1:p.Ile480Phe
NM_001372039.1:c.1402A>T (DLAT)	NP_001358968.1:p.Ile468Phe
NM_001372040.1:c.1336A>T (DLAT)	NP_001358969.1:p.Ile446Phe
NM_001372041.1:c.1294A>T (DLAT)	NP_001358970.1:p.Ile432Phe
NM_001372042.1:c.1255A>T (DLAT)	NP_001358971.1:p.Ile419Phe
NM_001931.5:c.1717A>T (DLAT) MANE Select	NP_001922.2:p.Ile573Phe
NR_164072.1:n.1594A>T (DLAT)