Canonical Allele Identifier: CA382618261

Gene: DLAT PIH1D2

Linked Data

• MyVariant Identifiers: chr11:g.111931816G>C (hg19) ; chr11:g.112061092G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061092G>C , CM000673.2:g.112061092G>C	GRCh38
NC_000011.9:g.111931816G>C , CM000673.1:g.111931816G>C	GRCh37
NC_000011.8:g.111437026G>C	NCBI36
NG_013342.1:g.41279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1732G>C (DLAT)	ENSP00000518862.1:p.Ala578Pro
ENST00000280346.11:c.1732G>C (DLAT) MANE Select	ENSP00000280346.7:p.Ala578Pro
ENST00000527231.2:n.1779G>C (DLAT)
ENST00000531306.2:c.1351G>C (DLAT)	ENSP00000433432.2:p.Ala451Pro
ENST00000679368.1:c.*659G>C (DLAT)	ENSP00000505314.1:n.*659G>C
ENST00000679614.1:c.1129G>C (DLAT)	ENSP00000506007.1:p.Ala377Pro
ENST00000679815.1:c.*1165G>C (DLAT)	ENSP00000504880.1:n.*1165G>C
ENST00000679878.1:c.1699G>C (DLAT)	ENSP00000505567.1:p.Ala567Pro
ENST00000680010.1:c.*873G>C (DLAT)	ENSP00000505768.1:n.*873G>C
ENST00000680154.1:n.1063G>C (DLAT)
ENST00000680331.1:c.1453G>C (DLAT)	ENSP00000506707.1:p.Ala485Pro
ENST00000680411.1:c.1477G>C (DLAT)	ENSP00000505915.1:p.Ala493Pro
ENST00000681316.1:c.1726G>C (DLAT)	ENSP00000506560.1:p.Ala576Pro
ENST00000681328.1:c.1711G>C (DLAT)	ENSP00000506355.1:p.Ala571Pro
ENST00000681339.1:c.1624G>C (DLAT)	ENSP00000506167.1:p.Ala542Pro
ENST00000681638.1:c.*1085G>C (DLAT)	ENSP00000506090.1:n.*1085G>C
ENST00000280346.10:c.1732G>C (DLAT)	ENSP00000280346.6:p.Ala578Pro
ENST00000393051.5:c.1417G>C (DLAT)	ENSP00000376771.1:p.Ala473Pro
ENST00000527231.1:n.126G>C (DLAT)
ENST00000531306.1:c.1228G>C (DLAT)	ENSP00000433432.1:p.Ala410Pro
ENST00000533297.1:c.*1407G>C (DLAT)	ENSP00000435374.1:n.*1407G>C
NM_001931.4:c.1732G>C (DLAT)	NP_001922.2:p.Ala578Pro
XM_011542590.1:c.814-298C>G (PIH1D2)	XP_011540892.1:n.814-298C>G
XM_011542592.1:c.814-8405C>G (PIH1D2)	XP_011540894.1:n.814-8405C>G
XM_011542647.1:c.1624G>C (DLAT)	XP_011540949.1:p.Ala542Pro
XM_011542647.3:c.1624G>C (DLAT)	XP_011540949.1:p.Ala542Pro
XM_017017202.2:c.814-5312C>G (PIH1D2)	XP_016872691.1:n.814-5312C>G
XM_017017203.2:c.814-298C>G (PIH1D2)	XP_016872692.1:n.814-298C>G
XM_017017204.2:c.814-5341C>G (PIH1D2)	XP_016872693.1:n.814-5341C>G
XM_017017205.2:c.814-8405C>G (PIH1D2)	XP_016872694.1:n.814-8405C>G
NM_001372031.1:c.1750G>C (DLAT)	NP_001358960.1:p.Ala584Pro
NM_001372032.1:c.1726G>C (DLAT)	NP_001358961.1:p.Ala576Pro
NM_001372033.1:c.1711G>C (DLAT)	NP_001358962.1:p.Ala571Pro
NM_001372034.1:c.1699G>C (DLAT)	NP_001358963.1:p.Ala567Pro
NM_001372035.1:c.1624G>C (DLAT)	NP_001358964.1:p.Ala542Pro
NM_001372036.1:c.1606G>C (DLAT)	NP_001358965.1:p.Ala536Pro
NM_001372037.1:c.1564G>C (DLAT)	NP_001358966.1:p.Ala522Pro
NM_001372038.1:c.1453G>C (DLAT)	NP_001358967.1:p.Ala485Pro
NM_001372039.1:c.1417G>C (DLAT)	NP_001358968.1:p.Ala473Pro
NM_001372040.1:c.1351G>C (DLAT)	NP_001358969.1:p.Ala451Pro
NM_001372041.1:c.1309G>C (DLAT)	NP_001358970.1:p.Ala437Pro
NM_001372042.1:c.1270G>C (DLAT)	NP_001358971.1:p.Ala424Pro
NM_001931.5:c.1732G>C (DLAT) MANE Select	NP_001922.2:p.Ala578Pro
NR_164072.1:n.1609G>C (DLAT)