Canonical Allele Identifier: CA382617981

Gene: DLAT PIH1D2

Linked Data

• gnomAD v4: 11-112061039-G-T
• COSMIC: COSM4777921
• MyVariant Identifiers: chr11:g.111931763G>T (hg19) ; chr11:g.112061039G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061039G>T , CM000673.2:g.112061039G>T	GRCh38
NC_000011.9:g.111931763G>T , CM000673.1:g.111931763G>T	GRCh37
NC_000011.8:g.111436973G>T	NCBI36
NG_013342.1:g.41226G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1679G>T (DLAT)	ENSP00000518862.1:p.Gly560Val
ENST00000280346.11:c.1679G>T (DLAT) MANE Select	ENSP00000280346.7:p.Gly560Val
ENST00000527231.2:n.1726G>T (DLAT)
ENST00000531306.2:c.1298G>T (DLAT)	ENSP00000433432.2:p.Gly433Val
ENST00000679368.1:c.*606G>T (DLAT)	ENSP00000505314.1:n.*606G>T
ENST00000679614.1:c.1076G>T (DLAT)	ENSP00000506007.1:p.Gly359Val
ENST00000679815.1:c.*1112G>T (DLAT)	ENSP00000504880.1:n.*1112G>T
ENST00000679878.1:c.1646G>T (DLAT)	ENSP00000505567.1:p.Gly549Val
ENST00000680010.1:c.*820G>T (DLAT)	ENSP00000505768.1:n.*820G>T
ENST00000680154.1:n.1010G>T (DLAT)
ENST00000680331.1:c.1400G>T (DLAT)	ENSP00000506707.1:p.Gly467Val
ENST00000680411.1:c.1424G>T (DLAT)	ENSP00000505915.1:p.Gly475Val
ENST00000681316.1:c.1673G>T (DLAT)	ENSP00000506560.1:p.Gly558Val
ENST00000681328.1:c.1658G>T (DLAT)	ENSP00000506355.1:p.Gly553Val
ENST00000681339.1:c.1571G>T (DLAT)	ENSP00000506167.1:p.Gly524Val
ENST00000681638.1:c.*1032G>T (DLAT)	ENSP00000506090.1:n.*1032G>T
ENST00000280346.10:c.1679G>T (DLAT)	ENSP00000280346.6:p.Gly560Val
ENST00000393051.5:c.1364G>T (DLAT)	ENSP00000376771.1:p.Gly455Val
ENST00000527231.1:n.73G>T (DLAT)
ENST00000531306.1:c.1175G>T (DLAT)	ENSP00000433432.1:p.Gly392Val
ENST00000533297.1:c.*1354G>T (DLAT)	ENSP00000435374.1:n.*1354G>T
NM_001931.4:c.1679G>T (DLAT)	NP_001922.2:p.Gly560Val
XM_011542590.1:c.814-245C>A (PIH1D2)	XP_011540892.1:n.814-245C>A
XM_011542592.1:c.814-8352C>A (PIH1D2)	XP_011540894.1:n.814-8352C>A
XM_011542647.1:c.1571G>T (DLAT)	XP_011540949.1:p.Gly524Val
XM_011542647.3:c.1571G>T (DLAT)	XP_011540949.1:p.Gly524Val
XM_017017202.2:c.814-5259C>A (PIH1D2)	XP_016872691.1:n.814-5259C>A
XM_017017203.2:c.814-245C>A (PIH1D2)	XP_016872692.1:n.814-245C>A
XM_017017204.2:c.814-5288C>A (PIH1D2)	XP_016872693.1:n.814-5288C>A
XM_017017205.2:c.814-8352C>A (PIH1D2)	XP_016872694.1:n.814-8352C>A
NM_001372031.1:c.1697G>T (DLAT)	NP_001358960.1:p.Gly566Val
NM_001372032.1:c.1673G>T (DLAT)	NP_001358961.1:p.Gly558Val
NM_001372033.1:c.1658G>T (DLAT)	NP_001358962.1:p.Gly553Val
NM_001372034.1:c.1646G>T (DLAT)	NP_001358963.1:p.Gly549Val
NM_001372035.1:c.1571G>T (DLAT)	NP_001358964.1:p.Gly524Val
NM_001372036.1:c.1553G>T (DLAT)	NP_001358965.1:p.Gly518Val
NM_001372037.1:c.1511G>T (DLAT)	NP_001358966.1:p.Gly504Val
NM_001372038.1:c.1400G>T (DLAT)	NP_001358967.1:p.Gly467Val
NM_001372039.1:c.1364G>T (DLAT)	NP_001358968.1:p.Gly455Val
NM_001372040.1:c.1298G>T (DLAT)	NP_001358969.1:p.Gly433Val
NM_001372041.1:c.1256G>T (DLAT)	NP_001358970.1:p.Gly419Val
NM_001372042.1:c.1217G>T (DLAT)	NP_001358971.1:p.Gly406Val
NM_001931.5:c.1679G>T (DLAT) MANE Select	NP_001922.2:p.Gly560Val
NR_164072.1:n.1556G>T (DLAT)