Canonical Allele Identifier: CA382618230

Gene: DLAT PIH1D2

Linked Data

• MyVariant Identifiers: chr11:g.111931809T>G (hg19) ; chr11:g.112061085T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061085T>G , CM000673.2:g.112061085T>G	GRCh38
NC_000011.9:g.111931809T>G , CM000673.1:g.111931809T>G	GRCh37
NC_000011.8:g.111437019T>G	NCBI36
NG_013342.1:g.41272T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1725T>G (DLAT)	ENSP00000518862.1:p.Asn575Lys
ENST00000280346.11:c.1725T>G (DLAT) MANE Select	ENSP00000280346.7:p.Asn575Lys
ENST00000527231.2:n.1772T>G (DLAT)
ENST00000531306.2:c.1344T>G (DLAT)	ENSP00000433432.2:p.Asn448Lys
ENST00000679368.1:c.*652T>G (DLAT)	ENSP00000505314.1:n.*652T>G
ENST00000679614.1:c.1122T>G (DLAT)	ENSP00000506007.1:p.Asn374Lys
ENST00000679815.1:c.*1158T>G (DLAT)	ENSP00000504880.1:n.*1158T>G
ENST00000679878.1:c.1692T>G (DLAT)	ENSP00000505567.1:p.Asn564Lys
ENST00000680010.1:c.*866T>G (DLAT)	ENSP00000505768.1:n.*866T>G
ENST00000680154.1:n.1056T>G (DLAT)
ENST00000680331.1:c.1446T>G (DLAT)	ENSP00000506707.1:p.Asn482Lys
ENST00000680411.1:c.1470T>G (DLAT)	ENSP00000505915.1:p.Asn490Lys
ENST00000681316.1:c.1719T>G (DLAT)	ENSP00000506560.1:p.Asn573Lys
ENST00000681328.1:c.1704T>G (DLAT)	ENSP00000506355.1:p.Asn568Lys
ENST00000681339.1:c.1617T>G (DLAT)	ENSP00000506167.1:p.Asn539Lys
ENST00000681638.1:c.*1078T>G (DLAT)	ENSP00000506090.1:n.*1078T>G
ENST00000280346.10:c.1725T>G (DLAT)	ENSP00000280346.6:p.Asn575Lys
ENST00000393051.5:c.1410T>G (DLAT)	ENSP00000376771.1:p.Asn470Lys
ENST00000527231.1:n.119T>G (DLAT)
ENST00000531306.1:c.1221T>G (DLAT)	ENSP00000433432.1:p.Asn407Lys
ENST00000533297.1:c.*1400T>G (DLAT)	ENSP00000435374.1:n.*1400T>G
NM_001931.4:c.1725T>G (DLAT)	NP_001922.2:p.Asn575Lys
XM_011542590.1:c.814-291A>C (PIH1D2)	XP_011540892.1:n.814-291A>C
XM_011542592.1:c.814-8398A>C (PIH1D2)	XP_011540894.1:n.814-8398A>C
XM_011542647.1:c.1617T>G (DLAT)	XP_011540949.1:p.Asn539Lys
XM_011542647.3:c.1617T>G (DLAT)	XP_011540949.1:p.Asn539Lys
XM_017017202.2:c.814-5305A>C (PIH1D2)	XP_016872691.1:n.814-5305A>C
XM_017017203.2:c.814-291A>C (PIH1D2)	XP_016872692.1:n.814-291A>C
XM_017017204.2:c.814-5334A>C (PIH1D2)	XP_016872693.1:n.814-5334A>C
XM_017017205.2:c.814-8398A>C (PIH1D2)	XP_016872694.1:n.814-8398A>C
NM_001372031.1:c.1743T>G (DLAT)	NP_001358960.1:p.Asn581Lys
NM_001372032.1:c.1719T>G (DLAT)	NP_001358961.1:p.Asn573Lys
NM_001372033.1:c.1704T>G (DLAT)	NP_001358962.1:p.Asn568Lys
NM_001372034.1:c.1692T>G (DLAT)	NP_001358963.1:p.Asn564Lys
NM_001372035.1:c.1617T>G (DLAT)	NP_001358964.1:p.Asn539Lys
NM_001372036.1:c.1599T>G (DLAT)	NP_001358965.1:p.Asn533Lys
NM_001372037.1:c.1557T>G (DLAT)	NP_001358966.1:p.Asn519Lys
NM_001372038.1:c.1446T>G (DLAT)	NP_001358967.1:p.Asn482Lys
NM_001372039.1:c.1410T>G (DLAT)	NP_001358968.1:p.Asn470Lys
NM_001372040.1:c.1344T>G (DLAT)	NP_001358969.1:p.Asn448Lys
NM_001372041.1:c.1302T>G (DLAT)	NP_001358970.1:p.Asn434Lys
NM_001372042.1:c.1263T>G (DLAT)	NP_001358971.1:p.Asn421Lys
NM_001931.5:c.1725T>G (DLAT) MANE Select	NP_001922.2:p.Asn575Lys
NR_164072.1:n.1602T>G (DLAT)