Canonical Allele Identifier: CA367727014
Gene: HIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1554498718
gnomAD v2: 7-75211409-T-C
gnomAD v3: 7-75582093-T-C
gnomAD v4: 7-75582093-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75582093T>C , CM000669.2:g.75582093T>C GRCh38
NC_000007.13:g.75211409T>C , CM000669.1:g.75211409T>C GRCh37
NC_000007.12:g.75049345T>C NCBI36
NG_023251.2:g.161869A>G
NG_023251.3:g.161869A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336926.11:c.524A>G MANE Select ENSP00000336747.6:p.Glu175Gly
ENST00000336926.10:c.524A>G ENSP00000336747.6:p.Glu175Gly
ENST00000420909.1:c.437A>G ENSP00000414280.1:p.Glu146Gly
ENST00000434438.6:c.524A>G ENSP00000410300.2:p.Glu175Gly
ENST00000616821.4:c.437A>G ENSP00000484528.1:p.Glu146Gly
NM_001243198.2:c.524A>G NP_001230127.1:p.Glu175Gly
NM_005338.6:c.524A>G NP_005329.3:p.Glu175Gly
XM_005250304.2:c.437A>G XP_005250361.1:p.Glu146Gly
XM_005250305.2:c.422A>G XP_005250362.1:p.Glu141Gly
XM_011516116.1:c.524A>G XP_011514418.1:p.Glu175Gly
XM_011516116.2:c.524A>G XP_011514418.1:p.Glu175Gly
XM_017012099.1:c.482A>G XP_016867588.1:p.Glu161Gly
NM_005338.7:c.524A>G MANE Select NP_005329.3:p.Glu175Gly
NM_001243198.3:c.524A>G NP_001230127.1:p.Glu175Gly
NM_001382444.1:c.422A>G NP_001369373.1:p.Glu141Gly
NM_001382445.1:c.437A>G NP_001369374.1:p.Glu146Gly