Canonical Allele Identifier: CA386970304

Gene: HNF1A

Linked Data

• MyVariant Identifiers: chr12:g.121435429C>G (hg19) ; chr12:g.120997626C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997626C>G , CM000674.2:g.120997626C>G	GRCh38
NC_000012.11:g.121435429C>G , CM000674.1:g.121435429C>G	GRCh37
NC_000012.10:g.119919812C>G	NCBI36
NG_011731.2:g.23881C>G , LRG_522:g.23881C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*209C>G	ENSP00000453965.2:n.*209C>G
ENST00000257555.11:c.1462C>G MANE Select	ENSP00000257555.5:p.Pro488Ala
ENST00000257555.10:c.1462C>G	ENSP00000257555.4:p.Pro488Ala
ENST00000400024.6:c.1462C>G	ENSP00000476181.1:p.Pro488Ala
ENST00000402929.5:n.2328C>G
ENST00000535955.5:n.178C>G
ENST00000538626.2:n.326C>G
ENST00000538646.5:c.*438C>G	ENSP00000443964.1:n.*438C>G
ENST00000540108.1:c.*902C>G	ENSP00000445445.1:n.*902C>G
ENST00000541395.5:c.1462C>G	ENSP00000443112.1:p.Pro488Ala
ENST00000541924.5:c.*476C>G	ENSP00000440361.1:n.*476C>G
ENST00000543255.1:n.506C>G
ENST00000543427.5:c.925C>G	ENSP00000439721.2:p.Pro309Ala
ENST00000544413.2:c.1462C>G	ENSP00000438804.1:p.Pro488Ala
ENST00000544574.5:c.*225C>G	ENSP00000438565.1:n.*225C>G
ENST00000560968.5:c.1279C>G
ENST00000615446.4:c.250C>G	ENSP00000483994.1:p.Pro84Ala
ENST00000617366.4:c.587-8C>G	ENSP00000481967.1:n.587-8C>G
NM_000545.5:c.1462C>G , LRG_522t1:c.1462C>G	NP_000536.5:p.Pro488Ala
NM_000545.6:c.1462C>G	NP_000536.5:p.Pro488Ala
NM_001306179.1:c.1462C>G	NP_001293108.1:p.Pro488Ala
XM_005253931.2:c.1462C>G	XP_005253988.1:p.Pro488Ala
XM_024449168.1:c.1462C>G	XP_024304936.1:p.Pro488Ala
NM_000545.8:c.1462C>G MANE Select	NP_000536.6:p.Pro488Ala
NM_001306179.2:c.1462C>G	NP_001293108.2:p.Pro488Ala