Canonical Allele Identifier: CA2067691105

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999358G= , CM000674.2:g.120999358G=	GRCh38
NC_000012.11:g.121437161G= , CM000674.1:g.121437161G=	GRCh37
NC_000012.10:g.119921544G=	NCBI36
NG_011731.2:g.25613G= , LRG_522:g.25613G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000545.8:c.1592G= MANE Select	NP_000536.6:p.Ser531=
ENST00000257555.11:c.1592G= MANE Select	ENSP00000257555.5:p.Ser531=
NM_000545.5:c.1592G= , LRG_522t1:c.1592G=	NP_000536.5:p.Ser531=
NM_000545.6:c.1592G=	NP_000536.5:p.Ser531=
NM_001306179.1:c.1592G=	NP_001293108.1:p.Ser531=
NM_001306179.2:c.1592G=	NP_001293108.2:p.Ser531=
ENST00000257555.10:c.1592G=	ENSP00000257555.4:p.Ser531=
ENST00000540108.1:c.*1032G=	ENSP00000445445.1:n.*1032G=
ENST00000541395.5:c.1592G=	ENSP00000443112.1:p.Ser531=
ENST00000543427.5:c.1055G=	ENSP00000439721.2:p.Ser352=
ENST00000544413.2:c.1592G=	ENSP00000438804.1:p.Ser531=
ENST00000560968.5:c.1409G=
ENST00000560968.6:c.*339G=	ENSP00000453965.2:n.*339G=
ENST00000615446.4:c.380G=	ENSP00000483994.1:p.Ser127=
ENST00000617366.4:c.*1G=	ENSP00000481967.1:n.*1G=
XM_005253931.2:c.1592G=	XP_005253988.1:p.Ser531=
XM_024449168.1:c.1592G=	XP_024304936.1:p.Ser531=