Canonical Allele Identifier: CA482165180
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135847786
MyVariant Identifiers: chr12:g.121435369C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997566C>T , CM000674.2:g.120997566C>T GRCh38
NC_000012.11:g.121435369C>T , CM000674.1:g.121435369C>T GRCh37
NC_000012.10:g.119919752C>T NCBI36
NG_011731.2:g.23821C>T , LRG_522:g.23821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*149C>T ENSP00000453965.2:n.*149C>T
ENST00000257555.11:c.1402C>T MANE Select ENSP00000257555.5:p.Leu468=
ENST00000257555.10:c.1402C>T ENSP00000257555.4:p.Leu468=
ENST00000400024.6:c.1402C>T ENSP00000476181.1:p.Leu468=
ENST00000402929.5:n.2268C>T
ENST00000535955.5:n.118C>T
ENST00000538626.2:n.266C>T
ENST00000538646.5:c.*378C>T ENSP00000443964.1:n.*378C>T
ENST00000540108.1:c.*842C>T ENSP00000445445.1:n.*842C>T
ENST00000541395.5:c.1402C>T ENSP00000443112.1:p.Leu468=
ENST00000541924.5:c.*416C>T ENSP00000440361.1:n.*416C>T
ENST00000543255.1:n.446C>T
ENST00000543427.5:c.865C>T ENSP00000439721.2:p.Leu289=
ENST00000544413.2:c.1402C>T ENSP00000438804.1:p.Leu468=
ENST00000544574.5:c.*165C>T ENSP00000438565.1:n.*165C>T
ENST00000560968.5:c.1219C>T
ENST00000615446.4:c.190C>T ENSP00000483994.1:p.Leu64=
ENST00000617366.4:c.587-68C>T ENSP00000481967.1:n.587-68C>T
NM_000545.5:c.1402C>T , LRG_522t1:c.1402C>T NP_000536.5:p.Leu468=
NM_000545.6:c.1402C>T NP_000536.5:p.Leu468=
NM_001306179.1:c.1402C>T NP_001293108.1:p.Leu468=
XM_005253931.2:c.1402C>T XP_005253988.1:p.Leu468=
XM_024449168.1:c.1402C>T XP_024304936.1:p.Leu468=
NM_000545.8:c.1402C>T MANE Select NP_000536.6:p.Leu468=
NM_001306179.2:c.1402C>T NP_001293108.2:p.Leu468=
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