Canonical Allele Identifier: CA6277006

Gene: DLAT PIH1D2

Linked Data

• dbSNP Id: rs782669907
• ExAC: 11:111931829 C / T
• gnomAD v2: 11-111931829-C-T
• gnomAD v3: 11-112061105-C-T
• gnomAD v4: 11-112061105-C-T
• MyVariant Identifiers: chr11:g.111931829C>T (hg19) ; chr11:g.112061105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112061105C>T , CM000673.2:g.112061105C>T	GRCh38
NC_000011.9:g.111931829C>T , CM000673.1:g.111931829C>T	GRCh37
NC_000011.8:g.111437039C>T	NCBI36
NG_013342.1:g.41292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1745C>T (DLAT)	ENSP00000518862.1:p.Pro582Leu
ENST00000280346.11:c.1745C>T (DLAT) MANE Select	ENSP00000280346.7:p.Pro582Leu
ENST00000527231.2:n.1792C>T (DLAT)
ENST00000531306.2:c.1364C>T (DLAT)	ENSP00000433432.2:p.Pro455Leu
ENST00000679368.1:c.*672C>T (DLAT)	ENSP00000505314.1:n.*672C>T
ENST00000679614.1:c.1142C>T (DLAT)	ENSP00000506007.1:p.Pro381Leu
ENST00000679815.1:c.*1178C>T (DLAT)	ENSP00000504880.1:n.*1178C>T
ENST00000679878.1:c.1712C>T (DLAT)	ENSP00000505567.1:p.Pro571Leu
ENST00000680010.1:c.*886C>T (DLAT)	ENSP00000505768.1:n.*886C>T
ENST00000680154.1:n.1076C>T (DLAT)
ENST00000680331.1:c.1466C>T (DLAT)	ENSP00000506707.1:p.Pro489Leu
ENST00000680411.1:c.1490C>T (DLAT)	ENSP00000505915.1:p.Pro497Leu
ENST00000681316.1:c.1739C>T (DLAT)	ENSP00000506560.1:p.Pro580Leu
ENST00000681328.1:c.1724C>T (DLAT)	ENSP00000506355.1:p.Pro575Leu
ENST00000681339.1:c.1637C>T (DLAT)	ENSP00000506167.1:p.Pro546Leu
ENST00000681638.1:c.*1098C>T (DLAT)	ENSP00000506090.1:n.*1098C>T
ENST00000280346.10:c.1745C>T (DLAT)	ENSP00000280346.6:p.Pro582Leu
ENST00000393051.5:c.1430C>T (DLAT)	ENSP00000376771.1:p.Pro477Leu
ENST00000527231.1:n.139C>T (DLAT)
ENST00000531306.1:c.1241C>T (DLAT)	ENSP00000433432.1:p.Pro414Leu
ENST00000533297.1:c.*1420C>T (DLAT)	ENSP00000435374.1:n.*1420C>T
NM_001931.4:c.1745C>T (DLAT)	NP_001922.2:p.Pro582Leu
XM_011542590.1:c.814-311G>A (PIH1D2)	XP_011540892.1:n.814-311G>A
XM_011542592.1:c.814-8418G>A (PIH1D2)	XP_011540894.1:n.814-8418G>A
XM_011542647.1:c.1637C>T (DLAT)	XP_011540949.1:p.Pro546Leu
XM_011542647.3:c.1637C>T (DLAT)	XP_011540949.1:p.Pro546Leu
XM_017017202.2:c.814-5325G>A (PIH1D2)	XP_016872691.1:n.814-5325G>A
XM_017017203.2:c.814-311G>A (PIH1D2)	XP_016872692.1:n.814-311G>A
XM_017017204.2:c.814-5354G>A (PIH1D2)	XP_016872693.1:n.814-5354G>A
XM_017017205.2:c.814-8418G>A (PIH1D2)	XP_016872694.1:n.814-8418G>A
NM_001372031.1:c.1763C>T (DLAT)	NP_001358960.1:p.Pro588Leu
NM_001372032.1:c.1739C>T (DLAT)	NP_001358961.1:p.Pro580Leu
NM_001372033.1:c.1724C>T (DLAT)	NP_001358962.1:p.Pro575Leu
NM_001372034.1:c.1712C>T (DLAT)	NP_001358963.1:p.Pro571Leu
NM_001372035.1:c.1637C>T (DLAT)	NP_001358964.1:p.Pro546Leu
NM_001372036.1:c.1619C>T (DLAT)	NP_001358965.1:p.Pro540Leu
NM_001372037.1:c.1577C>T (DLAT)	NP_001358966.1:p.Pro526Leu
NM_001372038.1:c.1466C>T (DLAT)	NP_001358967.1:p.Pro489Leu
NM_001372039.1:c.1430C>T (DLAT)	NP_001358968.1:p.Pro477Leu
NM_001372040.1:c.1364C>T (DLAT)	NP_001358969.1:p.Pro455Leu
NM_001372041.1:c.1322C>T (DLAT)	NP_001358970.1:p.Pro441Leu
NM_001372042.1:c.1283C>T (DLAT)	NP_001358971.1:p.Pro428Leu
NM_001931.5:c.1745C>T (DLAT) MANE Select	NP_001922.2:p.Pro582Leu
NR_164072.1:n.1622C>T (DLAT)