Canonical Allele Identifier: CA482164409

Gene: HNF1A

Linked Data

• MyVariant Identifiers: chr12:g.121434144T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996341T>C , CM000674.2:g.120996341T>C	GRCh38
NC_000012.11:g.121434144T>C , CM000674.1:g.121434144T>C	GRCh37
NC_000012.10:g.119918527T>C	NCBI36
NG_011731.2:g.22596T>C , LRG_522:g.22596T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-42T>C	ENSP00000453965.2:n.751-42T>C
ENST00000257555.11:c.1035T>C MANE Select	ENSP00000257555.5:p.Ser345=
ENST00000257555.10:c.1035T>C	ENSP00000257555.4:p.Ser345=
ENST00000400024.6:c.1035T>C	ENSP00000476181.1:p.Ser345=
ENST00000402929.5:n.1170T>C
ENST00000535955.5:n.43-1150T>C
ENST00000538626.2:n.191-1150T>C
ENST00000538646.5:c.*11T>C	ENSP00000443964.1:n.*11T>C
ENST00000540108.1:c.*475T>C	ENSP00000445445.1:n.*475T>C
ENST00000541395.5:c.1035T>C	ENSP00000443112.1:p.Ser345=
ENST00000541924.5:c.*49T>C	ENSP00000440361.1:n.*49T>C
ENST00000543427.5:c.634-263T>C	ENSP00000439721.2:n.634-263T>C
ENST00000544413.2:c.1035T>C	ENSP00000438804.1:p.Ser345=
ENST00000544574.5:c.73-276T>C	ENSP00000438565.1:n.73-276T>C
ENST00000560968.5:c.894-42T>C
ENST00000615446.4:c.-178T>C	ENSP00000483994.1:n.-178T>C
ENST00000617366.4:c.587-1293T>C	ENSP00000481967.1:n.587-1293T>C
NM_000545.5:c.1035T>C , LRG_522t1:c.1035T>C	NP_000536.5:p.Ser345=
NM_000545.6:c.1035T>C	NP_000536.5:p.Ser345=
NM_001306179.1:c.1035T>C	NP_001293108.1:p.Ser345=
XM_005253931.2:c.1035T>C	XP_005253988.1:p.Ser345=
XM_024449168.1:c.1035T>C	XP_024304936.1:p.Ser345=
NM_000545.8:c.1035T>C MANE Select	NP_000536.6:p.Ser345=
NM_001306179.2:c.1035T>C	NP_001293108.2:p.Ser345=