Canonical Allele Identifier: CA398944053
Gene: GIT1 HGNC NCBI
TP53I13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29574957A>C , CM000679.2:g.29574957A>C GRCh38
NC_000017.10:g.27901975A>C , CM000679.1:g.27901975A>C GRCh37
NC_000017.9:g.24926101A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225394.8:c.2074-43T>G (GIT1) MANE Select ENSP00000225394.3:n.2074-43T>G
ENST00000225394.7:c.2074-43T>G (GIT1) ENSP00000225394.3:n.2074-43T>G
ENST00000394869.7:c.2101-43T>G (GIT1) ENSP00000378338.3:n.2101-43T>G
ENST00000473217.5:n.2023-43T>G (GIT1)
ENST00000578670.5:c.517-43T>G (GIT1)
ENST00000579937.5:c.2078T>G (GIT1) ENSP00000464388.1:p.Val693Gly
ENST00000581348.5:c.2032-43T>G (GIT1) ENSP00000462775.1:n.2032-43T>G
NM_001085454.1:c.2101-43T>G (GIT1) NP_001078923.1:n.2101-43T>G
NM_014030.3:c.2074-43T>G (GIT1) NP_054749.2:n.2074-43T>G
XM_011524684.1:c.2101-22T>G (GIT1) XP_011522986.1:n.2101-22T>G
XM_011524685.1:c.2074-22T>G (GIT1) XP_011522987.1:n.2074-22T>G
XM_011525442.1:c.994+2260A>C (TP53I13) XP_011523744.1:n.994+2260A>C
XM_011525443.1:c.994+2260A>C (TP53I13) XP_011523745.1:n.994+2260A>C
XM_011525444.1:c.994+2260A>C (TP53I13) XP_011523746.1:n.994+2260A>C
XM_011525445.1:c.994+2260A>C (TP53I13) XP_011523747.1:n.994+2260A>C
XM_011525446.1:c.994+2260A>C (TP53I13) XP_011523748.1:n.994+2260A>C
XM_011525447.1:c.994+2260A>C (TP53I13) XP_011523749.1:n.994+2260A>C
XM_011525448.1:c.922+2260A>C (TP53I13) XP_011523750.1:n.922+2260A>C
XM_011525449.1:c.721+2260A>C (TP53I13) XP_011523751.1:n.721+2260A>C
XM_011524684.2:c.2101-22T>G (GIT1) XP_011522986.1:n.2101-22T>G
XM_011524685.2:c.2074-22T>G (GIT1) XP_011522987.1:n.2074-22T>G
XM_024450731.1:c.2197-22T>G (GIT1) XP_024306499.1:n.2197-22T>G
XM_024450732.1:c.2197-43T>G (GIT1) XP_024306500.1:n.2197-43T>G
XM_024450733.1:c.2170-22T>G (GIT1) XP_024306501.1:n.2170-22T>G
XM_024450734.1:c.2170-43T>G (GIT1) XP_024306502.1:n.2170-43T>G
NM_001085454.2:c.2101-43T>G (GIT1) NP_001078923.1:n.2101-43T>G
NM_014030.4:c.2074-43T>G (GIT1) MANE Select NP_054749.2:n.2074-43T>G