Canonical Allele Identifier: CA8518762

Gene: HNF1B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37687389G>T , CM000679.2:g.37687389G>T	GRCh38
NC_000017.10:g.36047392G>T , CM000679.1:g.36047392G>T	GRCh37
NC_000017.9:g.33121505G>T	NCBI36
NG_013019.2:g.62718C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000458.4:c.1657C>A MANE Select	NP_000449.1:p.Pro553Thr
ENST00000617811.5:c.1657C>A MANE Select	ENSP00000480291.1:p.Pro553Thr
NM_000458.3:c.1657C>A	NP_000449.1:p.Pro553Thr
NM_001165923.3:c.1579C>A	NP_001159395.1:p.Pro527Thr
NM_001165923.4:c.1579C>A	NP_001159395.1:p.Pro527Thr
NM_001304286.1:c.1265C>A	NP_001291215.1:p.Ser422Tyr
NM_001304286.2:c.1265C>A	NP_001291215.1:p.Ser422Tyr
ENST00000613727.4:c.1265C>A	ENSP00000477524.1:p.Ser422Tyr
ENST00000614313.4:c.1538C>A	ENSP00000482529.1:p.Ser513Tyr
ENST00000617272.4:c.*261C>A	ENSP00000478682.1:n.*261C>A
ENST00000617811.4:c.1657C>A	ENSP00000480291.1:p.Pro553Thr
ENST00000621123.4:c.1579C>A	ENSP00000482711.1:p.Pro527Thr
XM_011525160.1:c.1538C>A	XP_011523462.1:p.Ser513Tyr
XM_011525161.1:c.1462C>A	XP_011523463.1:p.Pro488Thr
XM_011525164.1:c.1460C>A	XP_011523466.1:p.Ser487Tyr
XR_002958135.1:n.1591+143G>T