Canonical Allele Identifier: CA386966901
Gene: HNF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121432200A>T (hg19) chr12:g.120994397A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994397A>T , CM000674.2:g.120994397A>T GRCh38
NC_000012.11:g.121432200A>T , CM000674.1:g.121432200A>T GRCh37
NC_000012.10:g.119916583A>T NCBI36
NG_011731.2:g.20652A>T , LRG_522:g.20652A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+197A>T ENSP00000453965.2:n.750+197A>T
ENST00000257555.11:c.947A>T MANE Select ENSP00000257555.5:p.Lys316Met
ENST00000257555.10:c.947A>T ENSP00000257555.4:p.Lys316Met
ENST00000400024.6:c.947A>T ENSP00000476181.1:p.Lys316Met
ENST00000402929.5:n.1082A>T
ENST00000535955.5:n.43-3094A>T
ENST00000538626.2:n.191-3094A>T
ENST00000538646.5:c.760A>T ENSP00000443964.1:p.Arg254Trp
ENST00000540108.1:c.*387A>T ENSP00000445445.1:n.*387A>T
ENST00000541395.5:c.947A>T ENSP00000443112.1:p.Lys316Met
ENST00000541924.5:c.713+691A>T ENSP00000440361.1:n.713+691A>T
ENST00000543427.5:c.633+771A>T ENSP00000439721.2:n.633+771A>T
ENST00000544413.2:c.947A>T ENSP00000438804.1:p.Lys316Met
ENST00000544574.5:c.73-2220A>T ENSP00000438565.1:n.73-2220A>T
ENST00000560968.5:c.893+197A>T
ENST00000615446.4:c.-257-1865A>T ENSP00000483994.1:n.-257-1865A>T
ENST00000617366.4:c.586+818A>T ENSP00000481967.1:n.586+818A>T
NM_000545.5:c.947A>T , LRG_522t1:c.947A>T NP_000536.5:p.Lys316Met
NM_000545.6:c.947A>T NP_000536.5:p.Lys316Met
NM_001306179.1:c.947A>T NP_001293108.1:p.Lys316Met
XM_005253931.2:c.947A>T XP_005253988.1:p.Lys316Met
XM_024449168.1:c.947A>T XP_024304936.1:p.Lys316Met
NM_000545.8:c.947A>T MANE Select NP_000536.6:p.Lys316Met
NM_001306179.2:c.947A>T NP_001293108.2:p.Lys316Met
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