Canonical Allele Identifier: CA7341172

Gene: HHIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99652590C>T , CM000676.2:g.99652590C>T	GRCh38
NC_000014.8:g.100118927C>T , CM000676.1:g.100118927C>T	GRCh37
NC_000014.7:g.99188680C>T	NCBI36
NG_051108.1:g.53115C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127258.3:c.622C>T MANE Select	NP_001120730.1:p.Arg208Cys
ENST00000330710.10:c.622C>T MANE Select	ENSP00000330601.5:p.Arg208Cys
NM_001127258.1:c.622C>T	NP_001120730.1:p.Arg208Cys
NM_001127258.2:c.622C>T	NP_001120730.1:p.Arg208Cys
NM_001329411.1:c.427C>T	NP_001316340.1:p.Arg143Cys
NM_001329411.2:c.427C>T	NP_001316340.1:p.Arg143Cys
NM_032425.4:c.622C>T	NP_115801.3:p.Arg208Cys
NM_032425.5:c.622C>T	NP_115801.3:p.Arg208Cys
ENST00000330710.9:c.622C>T	ENSP00000330601.5:p.Arg208Cys
ENST00000357223.2:c.622C>T	ENSP00000349757.2:p.Arg208Cys
XM_006720277.2:c.397C>T	XP_006720340.1:p.Arg133Cys
XM_006720277.3:c.397C>T	XP_006720340.1:p.Arg133Cys
XM_011537236.1:c.427C>T	XP_011535538.1:p.Arg143Cys
XM_011537236.2:c.427C>T	XP_011535538.1:p.Arg143Cys
XM_011537237.1:c.622C>T	XP_011535539.1:p.Arg208Cys
XM_011537237.2:c.622C>T	XP_011535539.1:p.Arg208Cys
XM_017021707.2:c.271C>T	XP_016877196.1:p.Arg91Cys