Canonical Allele Identifier: CA386963854

Gene: HNF1A

Linked Data

• MyVariant Identifiers: chr12:g.121431371A>C (hg19) ; chr12:g.120993568A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993568A>C , CM000674.2:g.120993568A>C	GRCh38
NC_000012.11:g.121431371A>C , CM000674.1:g.121431371A>C	GRCh37
NC_000012.10:g.119915754A>C	NCBI36
NG_011731.2:g.19823A>C , LRG_522:g.19823A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.575A>C	ENSP00000453965.2:p.Asp192Ala
ENST00000257555.11:c.575A>C MANE Select	ENSP00000257555.5:p.Asp192Ala
ENST00000257555.10:c.575A>C	ENSP00000257555.4:p.Asp192Ala
ENST00000400024.6:c.575A>C	ENSP00000476181.1:p.Asp192Ala
ENST00000402929.5:n.710A>C
ENST00000535955.5:n.43-3923A>C
ENST00000538626.2:n.191-3923A>C
ENST00000538646.5:c.527-596A>C	ENSP00000443964.1:n.527-596A>C
ENST00000540108.1:c.*15A>C	ENSP00000445445.1:n.*15A>C
ENST00000541395.5:c.575A>C	ENSP00000443112.1:p.Asp192Ala
ENST00000541924.5:c.575A>C	ENSP00000440361.1:p.Asp192Ala
ENST00000543427.5:c.575A>C	ENSP00000439721.2:p.Asp192Ala
ENST00000544413.2:c.575A>C	ENSP00000438804.1:p.Asp192Ala
ENST00000544574.5:c.73-3049A>C	ENSP00000438565.1:n.73-3049A>C
ENST00000560968.5:c.718A>C
ENST00000615446.4:c.-257-2694A>C	ENSP00000483994.1:n.-257-2694A>C
ENST00000617366.4:c.575A>C	ENSP00000481967.1:p.Asp192Ala
NM_000545.5:c.575A>C , LRG_522t1:c.575A>C	NP_000536.5:p.Asp192Ala
NM_000545.6:c.575A>C	NP_000536.5:p.Asp192Ala
NM_001306179.1:c.575A>C	NP_001293108.1:p.Asp192Ala
XM_005253931.2:c.575A>C	XP_005253988.1:p.Asp192Ala
XM_024449168.1:c.575A>C	XP_024304936.1:p.Asp192Ala
NM_000545.8:c.575A>C MANE Select	NP_000536.6:p.Asp192Ala
NM_001306179.2:c.575A>C	NP_001293108.2:p.Asp192Ala