Canonical Allele Identifier: CA386968136

Gene: HNF1A

Linked Data

• COSMIC: COSM3870928 ; COSM3870929
• MyVariant Identifiers: chr12:g.121434128C>T (hg19) ; chr12:g.120996325C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996325C>T , CM000674.2:g.120996325C>T	GRCh38
NC_000012.11:g.121434128C>T , CM000674.1:g.121434128C>T	GRCh37
NC_000012.10:g.119918511C>T	NCBI36
NG_011731.2:g.22580C>T , LRG_522:g.22580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-58C>T	ENSP00000453965.2:n.751-58C>T
ENST00000257555.11:c.1019C>T MANE Select	ENSP00000257555.5:p.Pro340Leu
ENST00000257555.10:c.1019C>T	ENSP00000257555.4:p.Pro340Leu
ENST00000400024.6:c.1019C>T	ENSP00000476181.1:p.Pro340Leu
ENST00000402929.5:n.1154C>T
ENST00000535955.5:n.43-1166C>T
ENST00000538626.2:n.191-1166C>T
ENST00000538646.5:c.832C>T	ENSP00000443964.1:p.Pro278Ser
ENST00000540108.1:c.*459C>T	ENSP00000445445.1:n.*459C>T
ENST00000541395.5:c.1019C>T	ENSP00000443112.1:p.Pro340Leu
ENST00000541924.5:c.*33C>T	ENSP00000440361.1:n.*33C>T
ENST00000543427.5:c.634-279C>T	ENSP00000439721.2:n.634-279C>T
ENST00000544413.2:c.1019C>T	ENSP00000438804.1:p.Pro340Leu
ENST00000544574.5:c.73-292C>T	ENSP00000438565.1:n.73-292C>T
ENST00000560968.5:c.894-58C>T
ENST00000615446.4:c.-194C>T	ENSP00000483994.1:n.-194C>T
ENST00000617366.4:c.587-1309C>T	ENSP00000481967.1:n.587-1309C>T
NM_000545.5:c.1019C>T , LRG_522t1:c.1019C>T	NP_000536.5:p.Pro340Leu
NM_000545.6:c.1019C>T	NP_000536.5:p.Pro340Leu
NM_001306179.1:c.1019C>T	NP_001293108.1:p.Pro340Leu
XM_005253931.2:c.1019C>T	XP_005253988.1:p.Pro340Leu
XM_024449168.1:c.1019C>T	XP_024304936.1:p.Pro340Leu
NM_000545.8:c.1019C>T MANE Select	NP_000536.6:p.Pro340Leu
NM_001306179.2:c.1019C>T	NP_001293108.2:p.Pro340Leu