Canonical Allele Identifier: CA244536078

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999321C>T , CM000674.2:g.120999321C>T	GRCh38
NC_000012.11:g.121437124C>T , CM000674.1:g.121437124C>T	GRCh37
NC_000012.10:g.119921507C>T	NCBI36
NG_011731.2:g.25576C>T , LRG_522:g.25576C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000545.8:c.1555C>T MANE Select	NP_000536.6:p.Pro519Ser
ENST00000257555.11:c.1555C>T MANE Select	ENSP00000257555.5:p.Pro519Ser
NM_000545.5:c.1555C>T , LRG_522t1:c.1555C>T	NP_000536.5:p.Pro519Ser
NM_000545.6:c.1555C>T	NP_000536.5:p.Pro519Ser
NM_001306179.1:c.1555C>T	NP_001293108.1:p.Pro519Ser
NM_001306179.2:c.1555C>T	NP_001293108.2:p.Pro519Ser
ENST00000257555.10:c.1555C>T	ENSP00000257555.4:p.Pro519Ser
ENST00000540108.1:c.*995C>T	ENSP00000445445.1:n.*995C>T
ENST00000541395.5:c.1555C>T	ENSP00000443112.1:p.Pro519Ser
ENST00000543427.5:c.1018C>T	ENSP00000439721.2:p.Pro340Ser
ENST00000544413.2:c.1555C>T	ENSP00000438804.1:p.Pro519Ser
ENST00000560968.5:c.1372C>T
ENST00000560968.6:c.*302C>T	ENSP00000453965.2:n.*302C>T
ENST00000615446.4:c.343C>T	ENSP00000483994.1:p.Pro115Ser
ENST00000617366.4:c.672C>T	ENSP00000481967.1:p.Ser224=
XM_005253931.2:c.1555C>T	XP_005253988.1:p.Pro519Ser
XM_024449168.1:c.1555C>T	XP_024304936.1:p.Pro519Ser