Canonical Allele Identifier: CA2104482

Gene: CATIP

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218364661C>T , CM000664.2:g.218364661C>T	GRCh38
NC_000002.11:g.219229384C>T , CM000664.1:g.219229384C>T	GRCh37
NC_000002.10:g.218937628C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_198559.2:c.664C>T MANE Select	NP_940961.1:p.His222Tyr
ENST00000289388.4:c.664C>T MANE Select	ENSP00000289388.3:p.His222Tyr
NM_001320865.1:c.697C>T	NP_001307794.1:p.His233Tyr
NM_001320865.2:c.697C>T	NP_001307794.1:p.His233Tyr
NM_198559.1:c.664C>T	NP_940961.1:p.His222Tyr
ENST00000289388.3:c.664C>T	ENSP00000289388.3:p.His222Tyr
ENST00000481940.1:n.227-2363C>T
XM_005246539.3:c.571C>T	XP_005246596.1:p.His191Tyr
XM_005246539.4:c.571C>T	XP_005246596.1:p.His191Tyr
XM_005246541.3:c.370C>T	XP_005246598.1:p.His124Tyr
XM_005246541.4:c.370C>T	XP_005246598.1:p.His124Tyr
XM_011511147.1:c.697C>T	XP_011509449.1:p.His233Tyr
XM_011511148.1:c.529C>T	XP_011509450.1:p.His177Tyr
XM_011511148.2:c.529C>T	XP_011509450.1:p.His177Tyr
XM_011511149.1:c.319C>T	XP_011509451.1:p.His107Tyr
XM_011511149.2:c.319C>T	XP_011509451.1:p.His107Tyr
XM_011511150.1:c.319C>T	XP_011509452.1:p.His107Tyr
XM_011511150.2:c.319C>T	XP_011509452.1:p.His107Tyr
XM_017004053.2:c.115C>T	XP_016859542.1:p.His39Tyr