Canonical Allele Identifier: CA482164449

Gene: HNF1A

Linked Data

• MyVariant Identifiers: chr12:g.121434193C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996390C>T , CM000674.2:g.120996390C>T	GRCh38
NC_000012.11:g.121434193C>T , CM000674.1:g.121434193C>T	GRCh37
NC_000012.10:g.119918576C>T	NCBI36
NG_011731.2:g.22645C>T , LRG_522:g.22645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.758C>T	ENSP00000453965.2:p.Pro253Leu
ENST00000257555.11:c.1084C>T MANE Select	ENSP00000257555.5:p.Leu362=
ENST00000257555.10:c.1084C>T	ENSP00000257555.4:p.Leu362=
ENST00000400024.6:c.1084C>T	ENSP00000476181.1:p.Leu362=
ENST00000402929.5:n.1219C>T
ENST00000535955.5:n.43-1101C>T
ENST00000538626.2:n.191-1101C>T
ENST00000538646.5:c.*60C>T	ENSP00000443964.1:n.*60C>T
ENST00000540108.1:c.*524C>T	ENSP00000445445.1:n.*524C>T
ENST00000541395.5:c.1084C>T	ENSP00000443112.1:p.Leu362=
ENST00000541924.5:c.*98C>T	ENSP00000440361.1:n.*98C>T
ENST00000543255.1:n.1C>T
ENST00000543427.5:c.634-214C>T	ENSP00000439721.2:n.634-214C>T
ENST00000544413.2:c.1084C>T	ENSP00000438804.1:p.Leu362=
ENST00000544574.5:c.73-227C>T	ENSP00000438565.1:n.73-227C>T
ENST00000560968.5:c.901C>T
ENST00000615446.4:c.-129C>T	ENSP00000483994.1:n.-129C>T
ENST00000617366.4:c.587-1244C>T	ENSP00000481967.1:n.587-1244C>T
NM_000545.5:c.1084C>T , LRG_522t1:c.1084C>T	NP_000536.5:p.Leu362=
NM_000545.6:c.1084C>T	NP_000536.5:p.Leu362=
NM_001306179.1:c.1084C>T	NP_001293108.1:p.Leu362=
XM_005253931.2:c.1084C>T	XP_005253988.1:p.Leu362=
XM_024449168.1:c.1084C>T	XP_024304936.1:p.Leu362=
NM_000545.8:c.1084C>T MANE Select	NP_000536.6:p.Leu362=
NM_001306179.2:c.1084C>T	NP_001293108.2:p.Leu362=