Canonical Allele Identifier: CA174256
Gene: HHIPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161519
ClinVar RCV Id: RCV000149054
dbSNP Id: rs193920989

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.99660375G>C , CM000676.2:g.99660375G>C GRCh38
NC_000014.8:g.100126712G>C , CM000676.1:g.100126712G>C GRCh37
NC_000014.7:g.99196465G>C NCBI36
NG_051108.1:g.60900G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330710.10:c.1471G>C MANE Select ENSP00000330601.5:p.Gly491Arg
ENST00000330710.9:c.1471G>C ENSP00000330601.5:p.Gly491Arg
ENST00000357223.2:c.1471G>C ENSP00000349757.2:p.Gly491Arg
NM_001127258.1:c.1471G>C NP_001120730.1:p.Gly491Arg
NM_032425.4:c.1471G>C NP_115801.3:p.Gly491Arg
XM_006720277.2:c.1246G>C XP_006720340.1:p.Gly416Arg
XM_011537236.1:c.1276G>C XP_011535538.1:p.Gly426Arg
XM_011537237.1:c.1471G>C XP_011535539.1:p.Gly491Arg
NM_001127258.2:c.1471G>C NP_001120730.1:p.Gly491Arg
NM_001329411.1:c.1276G>C NP_001316340.1:p.Gly426Arg
NM_032425.5:c.1471G>C NP_115801.3:p.Gly491Arg
XM_006720277.3:c.1246G>C XP_006720340.1:p.Gly416Arg
XM_011537236.2:c.1276G>C XP_011535538.1:p.Gly426Arg
XM_011537237.2:c.1471G>C XP_011535539.1:p.Gly491Arg
XM_017021707.2:c.1120G>C XP_016877196.1:p.Gly374Arg
NM_001329411.2:c.1276G>C NP_001316340.1:p.Gly426Arg
NM_001127258.3:c.1471G>C MANE Select NP_001120730.1:p.Gly491Arg