Canonical Allele Identifier: CA174256

Gene: HHIPL1

Linked Data

• ClinVar Variation Id: 161519
• ClinVar RCV Id: RCV000149054
• dbSNP Id: rs193920989
• COSMIC: COSM1178776
• MyVariant Identifiers: chr14:g.100126712G>C (hg19) ; chr14:g.99660375G>C (hg38)
• PubMed: PMID:23265383

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