Canonical Allele Identifier: CA350548127
Gene: CATIP HGNC NCBI
CATIP-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218357691C>G , CM000664.2:g.218357691C>G GRCh38
NC_000002.11:g.219222414C>G , CM000664.1:g.219222414C>G GRCh37
NC_000002.10:g.218930658C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289388.4:c.276C>G (CATIP) MANE Select ENSP00000289388.3:p.Ser92Arg
ENST00000289388.3:c.276C>G (CATIP) ENSP00000289388.3:p.Ser92Arg
ENST00000480532.1:n.644C>G (CATIP)
ENST00000495773.1:n.207C>G (CATIP)
NM_198559.1:c.276C>G (CATIP) NP_940961.1:p.Ser92Arg
NR_125777.1:n.53+223G>C (CATIP-AS2)
XM_005246539.3:c.183C>G (CATIP) XP_005246596.1:p.Ser61Arg
XM_005246541.3:c.26-346C>G (CATIP) XP_005246598.1:n.26-346C>G
XM_011511147.1:c.309C>G (CATIP) XP_011509449.1:p.Ser103Arg
XM_011511148.1:c.309C>G (CATIP) XP_011509450.1:p.Ser103Arg
XM_011511149.1:c.-121C>G (CATIP) XP_011509451.1:n.-121C>G
XM_011511150.1:c.-77-295C>G (CATIP) XP_011509452.1:n.-77-295C>G
NM_001320865.1:c.309C>G (CATIP) NP_001307794.1:p.Ser103Arg
XM_005246539.4:c.183C>G (CATIP) XP_005246596.1:p.Ser61Arg
XM_005246541.4:c.26-346C>G (CATIP) XP_005246598.1:n.26-346C>G
XM_011511148.2:c.309C>G (CATIP) XP_011509450.1:p.Ser103Arg
XM_011511149.2:c.-121C>G (CATIP) XP_011509451.1:n.-121C>G
XM_011511150.2:c.-77-295C>G (CATIP) XP_011509452.1:n.-77-295C>G
XM_017004053.2:c.-302C>G (CATIP) XP_016859542.1:n.-302C>G
NM_198559.2:c.276C>G (CATIP) MANE Select NP_940961.1:p.Ser92Arg
NM_001320865.2:c.309C>G (CATIP) NP_001307794.1:p.Ser103Arg