Canonical Allele Identifier: CA386960231

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 2735983
• ClinVar RCV Id: RCV003557792
• MyVariant Identifiers: chr12:g.121426767C>T (hg19) ; chr12:g.120988964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120988964C>T , CM000674.2:g.120988964C>T	GRCh38
NC_000012.11:g.121426767C>T , CM000674.1:g.121426767C>T	GRCh37
NC_000012.10:g.119911150C>T	NCBI36
NG_011731.2:g.15219C>T , LRG_522:g.15219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.458C>T	ENSP00000453965.2:p.Pro153Leu
ENST00000257555.11:c.458C>T MANE Select	ENSP00000257555.5:p.Pro153Leu
ENST00000257555.10:c.458C>T	ENSP00000257555.4:p.Pro153Leu
ENST00000400024.6:c.458C>T	ENSP00000476181.1:p.Pro153Leu
ENST00000402929.5:n.593C>T
ENST00000535955.5:n.43-8527C>T
ENST00000538626.2:n.191-8527C>T
ENST00000538646.5:c.458C>T	ENSP00000443964.1:p.Pro153Leu
ENST00000540108.1:c.327-4556C>T	ENSP00000445445.1:n.327-4556C>T
ENST00000541395.5:c.458C>T	ENSP00000443112.1:p.Pro153Leu
ENST00000541924.5:c.458C>T	ENSP00000440361.1:p.Pro153Leu
ENST00000543427.5:c.458C>T	ENSP00000439721.2:p.Pro153Leu
ENST00000544413.2:c.458C>T	ENSP00000438804.1:p.Pro153Leu
ENST00000544574.5:c.73-7653C>T	ENSP00000438565.1:n.73-7653C>T
ENST00000560968.5:c.601C>T
ENST00000615446.4:c.-257-7298C>T	ENSP00000483994.1:n.-257-7298C>T
ENST00000617366.4:c.458C>T	ENSP00000481967.1:p.Pro153Leu
NM_000545.5:c.458C>T , LRG_522t1:c.458C>T	NP_000536.5:p.Pro153Leu
NM_000545.6:c.458C>T	NP_000536.5:p.Pro153Leu
NM_001306179.1:c.458C>T	NP_001293108.1:p.Pro153Leu
XM_005253931.2:c.458C>T	XP_005253988.1:p.Pro153Leu
XM_024449168.1:c.458C>T	XP_024304936.1:p.Pro153Leu
NM_000545.8:c.458C>T MANE Select	NP_000536.6:p.Pro153Leu
NM_001306179.2:c.458C>T	NP_001293108.2:p.Pro153Leu