Canonical Allele Identifier: CA2067684007

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996698T= , CM000674.2:g.120996698T=	GRCh38
NC_000012.11:g.121434501T= , CM000674.1:g.121434501T=	GRCh37
NC_000012.10:g.119918884T=	NCBI36
NG_011731.2:g.22953T= , LRG_522:g.22953T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000545.8:c.1265T= MANE Select	NP_000536.6:p.Leu422=
ENST00000257555.11:c.1265T= MANE Select	ENSP00000257555.5:p.Leu422=
NM_000545.5:c.1265T= , LRG_522t1:c.1265T=	NP_000536.5:p.Leu422=
NM_000545.6:c.1265T=	NP_000536.5:p.Leu422=
NM_001306179.1:c.1265T=	NP_001293108.1:p.Leu422=
NM_001306179.2:c.1265T=	NP_001293108.2:p.Leu422=
ENST00000257555.10:c.1265T=	ENSP00000257555.4:p.Leu422=
ENST00000400024.6:c.1265T=	ENSP00000476181.1:p.Leu422=
ENST00000402929.5:n.1400T=
ENST00000535955.5:n.43-793T=
ENST00000538626.2:n.191-793T=
ENST00000538646.5:c.*241T=	ENSP00000443964.1:n.*241T=
ENST00000540108.1:c.*705T=	ENSP00000445445.1:n.*705T=
ENST00000541395.5:c.1265T=	ENSP00000443112.1:p.Leu422=
ENST00000541924.5:c.*279T=	ENSP00000440361.1:n.*279T=
ENST00000543255.1:n.309T=
ENST00000543427.5:c.728T=	ENSP00000439721.2:p.Leu243=
ENST00000544413.2:c.1265T=	ENSP00000438804.1:p.Leu422=
ENST00000544574.5:c.*28T=	ENSP00000438565.1:n.*28T=
ENST00000560968.5:c.1082T=
ENST00000560968.6:c.*12T=	ENSP00000453965.2:n.*12T=
ENST00000615446.4:c.53T=	ENSP00000483994.1:p.Leu18=
ENST00000617366.4:c.587-936T=	ENSP00000481967.1:n.587-936T=
XM_005253931.2:c.1265T=	XP_005253988.1:p.Leu422=
XM_024449168.1:c.1265T=	XP_024304936.1:p.Leu422=