Canonical Allele Identifier: CA386970328

Gene: HNF1A

Linked Data

• MyVariant Identifiers: chr12:g.121435438G>T (hg19) ; chr12:g.120997635G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997635G>T , CM000674.2:g.120997635G>T	GRCh38
NC_000012.11:g.121435438G>T , CM000674.1:g.121435438G>T	GRCh37
NC_000012.10:g.119919821G>T	NCBI36
NG_011731.2:g.23890G>T , LRG_522:g.23890G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*218G>T	ENSP00000453965.2:n.*218G>T
ENST00000257555.11:c.1471G>T MANE Select	ENSP00000257555.5:p.Ala491Ser
ENST00000257555.10:c.1471G>T	ENSP00000257555.4:p.Ala491Ser
ENST00000400024.6:c.1471G>T	ENSP00000476181.1:p.Ala491Ser
ENST00000402929.5:n.2337G>T
ENST00000535955.5:n.187G>T
ENST00000538626.2:n.335G>T
ENST00000538646.5:c.*447G>T	ENSP00000443964.1:n.*447G>T
ENST00000540108.1:c.*911G>T	ENSP00000445445.1:n.*911G>T
ENST00000541395.5:c.1471G>T	ENSP00000443112.1:p.Ala491Ser
ENST00000541924.5:c.*485G>T	ENSP00000440361.1:n.*485G>T
ENST00000543255.1:n.515G>T
ENST00000543427.5:c.934G>T	ENSP00000439721.2:p.Ala312Ser
ENST00000544413.2:c.1471G>T	ENSP00000438804.1:p.Ala491Ser
ENST00000544574.5:c.*234G>T	ENSP00000438565.1:n.*234G>T
ENST00000560968.5:c.1288G>T
ENST00000615446.4:c.259G>T	ENSP00000483994.1:p.Ala87Ser
ENST00000617366.4:c.588G>T	ENSP00000481967.1:p.Arg196Ser
NM_000545.5:c.1471G>T , LRG_522t1:c.1471G>T	NP_000536.5:p.Ala491Ser
NM_000545.6:c.1471G>T	NP_000536.5:p.Ala491Ser
NM_001306179.1:c.1471G>T	NP_001293108.1:p.Ala491Ser
XM_005253931.2:c.1471G>T	XP_005253988.1:p.Ala491Ser
XM_024449168.1:c.1471G>T	XP_024304936.1:p.Ala491Ser
NM_000545.8:c.1471G>T MANE Select	NP_000536.6:p.Ala491Ser
NM_001306179.2:c.1471G>T	NP_001293108.2:p.Ala491Ser