Canonical Allele Identifier: CA386968558

Gene: HNF1A

Linked Data

• MyVariant Identifiers: chr12:g.121434197T>G (hg19) ; chr12:g.120996394T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996394T>G , CM000674.2:g.120996394T>G	GRCh38
NC_000012.11:g.121434197T>G , CM000674.1:g.121434197T>G	GRCh37
NC_000012.10:g.119918580T>G	NCBI36
NG_011731.2:g.22649T>G , LRG_522:g.22649T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.762T>G	ENSP00000453965.2:p.Ala254=
ENST00000257555.11:c.1088T>G MANE Select	ENSP00000257555.5:p.Leu363Arg
ENST00000257555.10:c.1088T>G	ENSP00000257555.4:p.Leu363Arg
ENST00000400024.6:c.1088T>G	ENSP00000476181.1:p.Leu363Arg
ENST00000402929.5:n.1223T>G
ENST00000535955.5:n.43-1097T>G
ENST00000538626.2:n.191-1097T>G
ENST00000538646.5:c.*64T>G	ENSP00000443964.1:n.*64T>G
ENST00000540108.1:c.*528T>G	ENSP00000445445.1:n.*528T>G
ENST00000541395.5:c.1088T>G	ENSP00000443112.1:p.Leu363Arg
ENST00000541924.5:c.*102T>G	ENSP00000440361.1:n.*102T>G
ENST00000543255.1:n.5T>G
ENST00000543427.5:c.634-210T>G	ENSP00000439721.2:n.634-210T>G
ENST00000544413.2:c.1088T>G	ENSP00000438804.1:p.Leu363Arg
ENST00000544574.5:c.73-223T>G	ENSP00000438565.1:n.73-223T>G
ENST00000560968.5:c.905T>G
ENST00000615446.4:c.-125T>G	ENSP00000483994.1:n.-125T>G
ENST00000617366.4:c.587-1240T>G	ENSP00000481967.1:n.587-1240T>G
NM_000545.5:c.1088T>G , LRG_522t1:c.1088T>G	NP_000536.5:p.Leu363Arg
NM_000545.6:c.1088T>G	NP_000536.5:p.Leu363Arg
NM_001306179.1:c.1088T>G	NP_001293108.1:p.Leu363Arg
XM_005253931.2:c.1088T>G	XP_005253988.1:p.Leu363Arg
XM_024449168.1:c.1088T>G	XP_024304936.1:p.Leu363Arg
NM_000545.8:c.1088T>G MANE Select	NP_000536.6:p.Leu363Arg
NM_001306179.2:c.1088T>G	NP_001293108.2:p.Leu363Arg