Canonical Allele Identifier: CA2067691665

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999522C= , CM000674.2:g.120999522C=	GRCh38
NC_000012.11:g.121437325C= , CM000674.1:g.121437325C=	GRCh37
NC_000012.10:g.119921708C=	NCBI36
NG_011731.2:g.25777C= , LRG_522:g.25777C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000545.8:c.1663C= MANE Select	NP_000536.6:p.Leu555=
ENST00000257555.11:c.1663C= MANE Select	ENSP00000257555.5:p.Leu555=
NM_000545.5:c.1663C= , LRG_522t1:c.1663C=	NP_000536.5:p.Leu555=
NM_000545.6:c.1663C=	NP_000536.5:p.Leu555=
NM_001306179.1:c.1684C=	NP_001293108.1:p.Leu562=
NM_001306179.2:c.1684C=	NP_001293108.2:p.Leu562=
ENST00000257555.10:c.1663C=	ENSP00000257555.4:p.Leu555=
ENST00000540108.1:c.*1103C=	ENSP00000445445.1:n.*1103C=
ENST00000541395.5:c.1756C=	ENSP00000443112.1:p.Leu586=
ENST00000543427.5:c.1126C=	ENSP00000439721.2:p.Leu376=
ENST00000544413.2:c.1684C=	ENSP00000438804.1:p.Leu562=
ENST00000560968.5:c.1480C=
ENST00000560968.6:c.*410C=	ENSP00000453965.2:n.*410C=
ENST00000615446.4:c.451C=	ENSP00000483994.1:p.Leu151=
ENST00000617366.4:c.*72C=	ENSP00000481967.1:n.*72C=
XM_005253931.2:c.1756C=	XP_005253988.1:p.Leu586=
XM_024449168.1:c.1756C=	XP_024304936.1:p.Leu586=