Canonical Allele Identifier: CA482431265

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999606C>A , CM000674.2:g.120999606C>A	GRCh38
NC_000012.11:g.121437409C>A , CM000674.1:g.121437409C>A	GRCh37
NC_000012.10:g.119921792C>A	NCBI36
NG_011731.2:g.25861C>A , LRG_522:g.25861C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000545.8:c.1747C>A MANE Select	NP_000536.6:p.Arg583=
ENST00000257555.11:c.1747C>A MANE Select	ENSP00000257555.5:p.Arg583=
NM_000545.5:c.1747C>A , LRG_522t1:c.1747C>A	NP_000536.5:p.Arg583=
NM_000545.6:c.1747C>A	NP_000536.5:p.Arg583=
NM_001306179.1:c.1768C>A	NP_001293108.1:p.Arg590=
NM_001306179.2:c.1768C>A	NP_001293108.2:p.Arg590=
ENST00000257555.10:c.1747C>A	ENSP00000257555.4:p.Arg583=
ENST00000540108.1:c.*1187C>A	ENSP00000445445.1:n.*1187C>A
ENST00000541395.5:c.1840C>A	ENSP00000443112.1:p.Arg614=
ENST00000543427.5:c.1210C>A	ENSP00000439721.2:p.Arg404=
ENST00000544413.2:c.1768C>A	ENSP00000438804.1:p.Arg590=
ENST00000560968.5:c.1564C>A
ENST00000560968.6:c.*494C>A	ENSP00000453965.2:n.*494C>A
ENST00000615446.4:c.535C>A	ENSP00000483994.1:p.Arg179=
ENST00000617366.4:c.*156C>A	ENSP00000481967.1:n.*156C>A
XM_005253931.2:c.1840C>A	XP_005253988.1:p.Arg614=
XM_024449168.1:c.1840C>A	XP_024304936.1:p.Arg614=