Canonical Allele Identifier: CA6276998

Gene: DLAT PIH1D2

Linked Data

• ClinVar Variation Id: 2804546
• ClinVar RCV Id: RCV003604062
• dbSNP Id: rs781998564
• ExAC: 11:111931779 C / A
• gnomAD v2: 11-111931779-C-A
• gnomAD v4: 11-112061055-C-A
• MyVariant Identifiers: chr11:g.111931779C>A (hg19) ; chr11:g.112061055C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061055C>A , CM000673.2:g.112061055C>A	GRCh38
NC_000011.9:g.111931779C>A , CM000673.1:g.111931779C>A	GRCh37
NC_000011.8:g.111436989C>A	NCBI36
NG_013342.1:g.41242C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1695C>A (DLAT)	ENSP00000518862.1:p.Ile565=
ENST00000280346.11:c.1695C>A (DLAT) MANE Select	ENSP00000280346.7:p.Ile565=
ENST00000527231.2:n.1742C>A (DLAT)
ENST00000531306.2:c.1314C>A (DLAT)	ENSP00000433432.2:p.Ile438=
ENST00000679368.1:c.*622C>A (DLAT)	ENSP00000505314.1:n.*622C>A
ENST00000679614.1:c.1092C>A (DLAT)	ENSP00000506007.1:p.Ile364=
ENST00000679815.1:c.*1128C>A (DLAT)	ENSP00000504880.1:n.*1128C>A
ENST00000679878.1:c.1662C>A (DLAT)	ENSP00000505567.1:p.Ile554=
ENST00000680010.1:c.*836C>A (DLAT)	ENSP00000505768.1:n.*836C>A
ENST00000680154.1:n.1026C>A (DLAT)
ENST00000680331.1:c.1416C>A (DLAT)	ENSP00000506707.1:p.Ile472=
ENST00000680411.1:c.1440C>A (DLAT)	ENSP00000505915.1:p.Ile480=
ENST00000681316.1:c.1689C>A (DLAT)	ENSP00000506560.1:p.Ile563=
ENST00000681328.1:c.1674C>A (DLAT)	ENSP00000506355.1:p.Ile558=
ENST00000681339.1:c.1587C>A (DLAT)	ENSP00000506167.1:p.Ile529=
ENST00000681638.1:c.*1048C>A (DLAT)	ENSP00000506090.1:n.*1048C>A
ENST00000280346.10:c.1695C>A (DLAT)	ENSP00000280346.6:p.Ile565=
ENST00000393051.5:c.1380C>A (DLAT)	ENSP00000376771.1:p.Ile460=
ENST00000527231.1:n.89C>A (DLAT)
ENST00000531306.1:c.1191C>A (DLAT)	ENSP00000433432.1:p.Ile397=
ENST00000533297.1:c.*1370C>A (DLAT)	ENSP00000435374.1:n.*1370C>A
NM_001931.4:c.1695C>A (DLAT)	NP_001922.2:p.Ile565=
XM_011542590.1:c.814-261G>T (PIH1D2)	XP_011540892.1:n.814-261G>T
XM_011542592.1:c.814-8368G>T (PIH1D2)	XP_011540894.1:n.814-8368G>T
XM_011542647.1:c.1587C>A (DLAT)	XP_011540949.1:p.Ile529=
XM_011542647.3:c.1587C>A (DLAT)	XP_011540949.1:p.Ile529=
XM_017017202.2:c.814-5275G>T (PIH1D2)	XP_016872691.1:n.814-5275G>T
XM_017017203.2:c.814-261G>T (PIH1D2)	XP_016872692.1:n.814-261G>T
XM_017017204.2:c.814-5304G>T (PIH1D2)	XP_016872693.1:n.814-5304G>T
XM_017017205.2:c.814-8368G>T (PIH1D2)	XP_016872694.1:n.814-8368G>T
NM_001372031.1:c.1713C>A (DLAT)	NP_001358960.1:p.Ile571=
NM_001372032.1:c.1689C>A (DLAT)	NP_001358961.1:p.Ile563=
NM_001372033.1:c.1674C>A (DLAT)	NP_001358962.1:p.Ile558=
NM_001372034.1:c.1662C>A (DLAT)	NP_001358963.1:p.Ile554=
NM_001372035.1:c.1587C>A (DLAT)	NP_001358964.1:p.Ile529=
NM_001372036.1:c.1569C>A (DLAT)	NP_001358965.1:p.Ile523=
NM_001372037.1:c.1527C>A (DLAT)	NP_001358966.1:p.Ile509=
NM_001372038.1:c.1416C>A (DLAT)	NP_001358967.1:p.Ile472=
NM_001372039.1:c.1380C>A (DLAT)	NP_001358968.1:p.Ile460=
NM_001372040.1:c.1314C>A (DLAT)	NP_001358969.1:p.Ile438=
NM_001372041.1:c.1272C>A (DLAT)	NP_001358970.1:p.Ile424=
NM_001372042.1:c.1233C>A (DLAT)	NP_001358971.1:p.Ile411=
NM_001931.5:c.1695C>A (DLAT) MANE Select	NP_001922.2:p.Ile565=
NR_164072.1:n.1572C>A (DLAT)