Canonical Allele Identifier: CA476791674

Gene: DLAT PIH1D2

Linked Data

• MyVariant Identifiers: chr11:g.111931824T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061100T>C , CM000673.2:g.112061100T>C	GRCh38
NC_000011.9:g.111931824T>C , CM000673.1:g.111931824T>C	GRCh37
NC_000011.8:g.111437034T>C	NCBI36
NG_013342.1:g.41287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1740T>C (DLAT)	ENSP00000518862.1:p.Ile580=
ENST00000280346.11:c.1740T>C (DLAT) MANE Select	ENSP00000280346.7:p.Ile580=
ENST00000527231.2:n.1787T>C (DLAT)
ENST00000531306.2:c.1359T>C (DLAT)	ENSP00000433432.2:p.Ile453=
ENST00000679368.1:c.*667T>C (DLAT)	ENSP00000505314.1:n.*667T>C
ENST00000679614.1:c.1137T>C (DLAT)	ENSP00000506007.1:p.Ile379=
ENST00000679815.1:c.*1173T>C (DLAT)	ENSP00000504880.1:n.*1173T>C
ENST00000679878.1:c.1707T>C (DLAT)	ENSP00000505567.1:p.Ile569=
ENST00000680010.1:c.*881T>C (DLAT)	ENSP00000505768.1:n.*881T>C
ENST00000680154.1:n.1071T>C (DLAT)
ENST00000680331.1:c.1461T>C (DLAT)	ENSP00000506707.1:p.Ile487=
ENST00000680411.1:c.1485T>C (DLAT)	ENSP00000505915.1:p.Ile495=
ENST00000681316.1:c.1734T>C (DLAT)	ENSP00000506560.1:p.Ile578=
ENST00000681328.1:c.1719T>C (DLAT)	ENSP00000506355.1:p.Ile573=
ENST00000681339.1:c.1632T>C (DLAT)	ENSP00000506167.1:p.Ile544=
ENST00000681638.1:c.*1093T>C (DLAT)	ENSP00000506090.1:n.*1093T>C
ENST00000280346.10:c.1740T>C (DLAT)	ENSP00000280346.6:p.Ile580=
ENST00000393051.5:c.1425T>C (DLAT)	ENSP00000376771.1:p.Ile475=
ENST00000527231.1:n.134T>C (DLAT)
ENST00000531306.1:c.1236T>C (DLAT)	ENSP00000433432.1:p.Ile412=
ENST00000533297.1:c.*1415T>C (DLAT)	ENSP00000435374.1:n.*1415T>C
NM_001931.4:c.1740T>C (DLAT)	NP_001922.2:p.Ile580=
XM_011542590.1:c.814-306A>G (PIH1D2)	XP_011540892.1:n.814-306A>G
XM_011542592.1:c.814-8413A>G (PIH1D2)	XP_011540894.1:n.814-8413A>G
XM_011542647.1:c.1632T>C (DLAT)	XP_011540949.1:p.Ile544=
XM_011542647.3:c.1632T>C (DLAT)	XP_011540949.1:p.Ile544=
XM_017017202.2:c.814-5320A>G (PIH1D2)	XP_016872691.1:n.814-5320A>G
XM_017017203.2:c.814-306A>G (PIH1D2)	XP_016872692.1:n.814-306A>G
XM_017017204.2:c.814-5349A>G (PIH1D2)	XP_016872693.1:n.814-5349A>G
XM_017017205.2:c.814-8413A>G (PIH1D2)	XP_016872694.1:n.814-8413A>G
NM_001372031.1:c.1758T>C (DLAT)	NP_001358960.1:p.Ile586=
NM_001372032.1:c.1734T>C (DLAT)	NP_001358961.1:p.Ile578=
NM_001372033.1:c.1719T>C (DLAT)	NP_001358962.1:p.Ile573=
NM_001372034.1:c.1707T>C (DLAT)	NP_001358963.1:p.Ile569=
NM_001372035.1:c.1632T>C (DLAT)	NP_001358964.1:p.Ile544=
NM_001372036.1:c.1614T>C (DLAT)	NP_001358965.1:p.Ile538=
NM_001372037.1:c.1572T>C (DLAT)	NP_001358966.1:p.Ile524=
NM_001372038.1:c.1461T>C (DLAT)	NP_001358967.1:p.Ile487=
NM_001372039.1:c.1425T>C (DLAT)	NP_001358968.1:p.Ile475=
NM_001372040.1:c.1359T>C (DLAT)	NP_001358969.1:p.Ile453=
NM_001372041.1:c.1317T>C (DLAT)	NP_001358970.1:p.Ile439=
NM_001372042.1:c.1278T>C (DLAT)	NP_001358971.1:p.Ile426=
NM_001931.5:c.1740T>C (DLAT) MANE Select	NP_001922.2:p.Ile580=
NR_164072.1:n.1617T>C (DLAT)