Canonical Allele Identifier: CA386951973

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 502525
• ClinVar RCV Id: RCV000595936 ; RCV001843362
• dbSNP Id: rs193922592
• MyVariant Identifiers: chr12:g.121416572A>T (hg19) ; chr12:g.120978769A>T (hg38)
• ERepo: CA386951973/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120978769A>T , CM000674.2:g.120978769A>T	GRCh38
NC_000012.11:g.121416572A>T , CM000674.1:g.121416572A>T	GRCh37
NC_000012.10:g.119900955A>T	NCBI36
NG_011731.2:g.5024A>T , LRG_522:g.5024A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.1A>T	ENSP00000453965.2:p.Met1Leu
ENST00000257555.11:c.1A>T MANE Select	ENSP00000257555.5:p.Met1Leu
ENST00000257555.10:c.1A>T	ENSP00000257555.4:p.Met1Leu
ENST00000400024.6:c.1A>T	ENSP00000476181.1:p.Met1Leu
ENST00000402929.5:n.136A>T
ENST00000535955.5:n.42+77A>T
ENST00000538626.2:n.119A>T
ENST00000538646.5:c.1A>T	ENSP00000443964.1:p.Met1Leu
ENST00000540108.1:c.1A>T	ENSP00000445445.1:p.Met1Leu
ENST00000541395.5:c.1A>T	ENSP00000443112.1:p.Met1Leu
ENST00000541924.5:c.1A>T	ENSP00000440361.1:p.Met1Leu
ENST00000543427.5:c.1A>T	ENSP00000439721.2:p.Met1Leu
ENST00000544413.2:c.1A>T	ENSP00000438804.1:p.Met1Leu
ENST00000544574.5:c.1A>T	ENSP00000438565.1:p.Met1Leu
ENST00000560968.5:c.144A>T
ENST00000615446.4:c.-258+58A>T	ENSP00000483994.1:n.-258+58A>T
ENST00000617366.4:c.1A>T	ENSP00000481967.1:p.Met1Leu
NM_000545.5:c.1A>T , LRG_522t1:c.1A>T	NP_000536.5:p.Met1Leu
NM_000545.6:c.1A>T	NP_000536.5:p.Met1Leu
NM_001306179.1:c.1A>T	NP_001293108.1:p.Met1Leu
XM_005253931.2:c.1A>T	XP_005253988.1:p.Met1Leu
XM_024449168.1:c.1A>T	XP_024304936.1:p.Met1Leu
NM_000545.8:c.1A>T MANE Select	NP_000536.6:p.Met1Leu
NM_001306179.2:c.1A>T	NP_001293108.2:p.Met1Leu