Canonical Allele Identifier: CA382618293

Gene: DLAT PIH1D2

Linked Data

• MyVariant Identifiers: chr11:g.111931823T>G (hg19) ; chr11:g.112061099T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061099T>G , CM000673.2:g.112061099T>G	GRCh38
NC_000011.9:g.111931823T>G , CM000673.1:g.111931823T>G	GRCh37
NC_000011.8:g.111437033T>G	NCBI36
NG_013342.1:g.41286T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1739T>G (DLAT)	ENSP00000518862.1:p.Ile580Ser
ENST00000280346.11:c.1739T>G (DLAT) MANE Select	ENSP00000280346.7:p.Ile580Ser
ENST00000527231.2:n.1786T>G (DLAT)
ENST00000531306.2:c.1358T>G (DLAT)	ENSP00000433432.2:p.Ile453Ser
ENST00000679368.1:c.*666T>G (DLAT)	ENSP00000505314.1:n.*666T>G
ENST00000679614.1:c.1136T>G (DLAT)	ENSP00000506007.1:p.Ile379Ser
ENST00000679815.1:c.*1172T>G (DLAT)	ENSP00000504880.1:n.*1172T>G
ENST00000679878.1:c.1706T>G (DLAT)	ENSP00000505567.1:p.Ile569Ser
ENST00000680010.1:c.*880T>G (DLAT)	ENSP00000505768.1:n.*880T>G
ENST00000680154.1:n.1070T>G (DLAT)
ENST00000680331.1:c.1460T>G (DLAT)	ENSP00000506707.1:p.Ile487Ser
ENST00000680411.1:c.1484T>G (DLAT)	ENSP00000505915.1:p.Ile495Ser
ENST00000681316.1:c.1733T>G (DLAT)	ENSP00000506560.1:p.Ile578Ser
ENST00000681328.1:c.1718T>G (DLAT)	ENSP00000506355.1:p.Ile573Ser
ENST00000681339.1:c.1631T>G (DLAT)	ENSP00000506167.1:p.Ile544Ser
ENST00000681638.1:c.*1092T>G (DLAT)	ENSP00000506090.1:n.*1092T>G
ENST00000280346.10:c.1739T>G (DLAT)	ENSP00000280346.6:p.Ile580Ser
ENST00000393051.5:c.1424T>G (DLAT)	ENSP00000376771.1:p.Ile475Ser
ENST00000527231.1:n.133T>G (DLAT)
ENST00000531306.1:c.1235T>G (DLAT)	ENSP00000433432.1:p.Ile412Ser
ENST00000533297.1:c.*1414T>G (DLAT)	ENSP00000435374.1:n.*1414T>G
NM_001931.4:c.1739T>G (DLAT)	NP_001922.2:p.Ile580Ser
XM_011542590.1:c.814-305A>C (PIH1D2)	XP_011540892.1:n.814-305A>C
XM_011542592.1:c.814-8412A>C (PIH1D2)	XP_011540894.1:n.814-8412A>C
XM_011542647.1:c.1631T>G (DLAT)	XP_011540949.1:p.Ile544Ser
XM_011542647.3:c.1631T>G (DLAT)	XP_011540949.1:p.Ile544Ser
XM_017017202.2:c.814-5319A>C (PIH1D2)	XP_016872691.1:n.814-5319A>C
XM_017017203.2:c.814-305A>C (PIH1D2)	XP_016872692.1:n.814-305A>C
XM_017017204.2:c.814-5348A>C (PIH1D2)	XP_016872693.1:n.814-5348A>C
XM_017017205.2:c.814-8412A>C (PIH1D2)	XP_016872694.1:n.814-8412A>C
NM_001372031.1:c.1757T>G (DLAT)	NP_001358960.1:p.Ile586Ser
NM_001372032.1:c.1733T>G (DLAT)	NP_001358961.1:p.Ile578Ser
NM_001372033.1:c.1718T>G (DLAT)	NP_001358962.1:p.Ile573Ser
NM_001372034.1:c.1706T>G (DLAT)	NP_001358963.1:p.Ile569Ser
NM_001372035.1:c.1631T>G (DLAT)	NP_001358964.1:p.Ile544Ser
NM_001372036.1:c.1613T>G (DLAT)	NP_001358965.1:p.Ile538Ser
NM_001372037.1:c.1571T>G (DLAT)	NP_001358966.1:p.Ile524Ser
NM_001372038.1:c.1460T>G (DLAT)	NP_001358967.1:p.Ile487Ser
NM_001372039.1:c.1424T>G (DLAT)	NP_001358968.1:p.Ile475Ser
NM_001372040.1:c.1358T>G (DLAT)	NP_001358969.1:p.Ile453Ser
NM_001372041.1:c.1316T>G (DLAT)	NP_001358970.1:p.Ile439Ser
NM_001372042.1:c.1277T>G (DLAT)	NP_001358971.1:p.Ile426Ser
NM_001931.5:c.1739T>G (DLAT) MANE Select	NP_001922.2:p.Ile580Ser
NR_164072.1:n.1616T>G (DLAT)