Canonical Allele Identifier: CA482165164

Gene: HNF1A

Linked Data

• MyVariant Identifiers: chr12:g.121435341C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997538C>A , CM000674.2:g.120997538C>A	GRCh38
NC_000012.11:g.121435341C>A , CM000674.1:g.121435341C>A	GRCh37
NC_000012.10:g.119919724C>A	NCBI36
NG_011731.2:g.23793C>A , LRG_522:g.23793C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*121C>A	ENSP00000453965.2:n.*121C>A
ENST00000257555.11:c.1374C>A MANE Select	ENSP00000257555.5:p.Thr458=
ENST00000257555.10:c.1374C>A	ENSP00000257555.4:p.Thr458=
ENST00000400024.6:c.1374C>A	ENSP00000476181.1:p.Thr458=
ENST00000402929.5:n.2240C>A
ENST00000535955.5:n.90C>A
ENST00000538626.2:n.238C>A
ENST00000538646.5:c.*350C>A	ENSP00000443964.1:n.*350C>A
ENST00000540108.1:c.*814C>A	ENSP00000445445.1:n.*814C>A
ENST00000541395.5:c.1374C>A	ENSP00000443112.1:p.Thr458=
ENST00000541924.5:c.*388C>A	ENSP00000440361.1:n.*388C>A
ENST00000543255.1:n.418C>A
ENST00000543427.5:c.837C>A	ENSP00000439721.2:p.Thr279=
ENST00000544413.2:c.1374C>A	ENSP00000438804.1:p.Thr458=
ENST00000544574.5:c.*137C>A	ENSP00000438565.1:n.*137C>A
ENST00000560968.5:c.1191C>A
ENST00000615446.4:c.162C>A	ENSP00000483994.1:p.Thr54=
ENST00000617366.4:c.587-96C>A	ENSP00000481967.1:n.587-96C>A
NM_000545.5:c.1374C>A , LRG_522t1:c.1374C>A	NP_000536.5:p.Thr458=
NM_000545.6:c.1374C>A	NP_000536.5:p.Thr458=
NM_001306179.1:c.1374C>A	NP_001293108.1:p.Thr458=
XM_005253931.2:c.1374C>A	XP_005253988.1:p.Thr458=
XM_024449168.1:c.1374C>A	XP_024304936.1:p.Thr458=
NM_000545.8:c.1374C>A MANE Select	NP_000536.6:p.Thr458=
NM_001306179.2:c.1374C>A	NP_001293108.2:p.Thr458=