Canonical Allele Identifier: CA8476140
Gene: GIT1 HGNC NCBI
TP53I13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29576980A>C , CM000679.2:g.29576980A>C GRCh38
NC_000017.10:g.27903998A>C , CM000679.1:g.27903998A>C GRCh37
NC_000017.9:g.24928124A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225394.8:c.1110T>G (GIT1) MANE Select ENSP00000225394.3:p.Ser370=
ENST00000225394.7:c.1110T>G (GIT1) ENSP00000225394.3:p.Ser370=
ENST00000394869.7:c.1137T>G (GIT1) ENSP00000378338.3:p.Ser379=
ENST00000473217.5:n.900T>G (GIT1)
ENST00000579937.5:c.1110T>G (GIT1) ENSP00000464388.1:p.Ser370=
ENST00000581348.5:c.1137T>G (GIT1) ENSP00000462775.1:p.Ser379=
ENST00000581925.1:n.518T>G (GIT1)
ENST00000585148.1:c.345T>G (GIT1) ENSP00000463543.1:p.Ser115=
ENST00000586574.5:n.484T>G (GIT1)
NM_001085454.1:c.1137T>G (GIT1) NP_001078923.1:p.Ser379=
NM_014030.3:c.1110T>G (GIT1) NP_054749.2:p.Ser370=
XM_011524684.1:c.1137T>G (GIT1) XP_011522986.1:p.Ser379=
XM_011524685.1:c.1110T>G (GIT1) XP_011522987.1:p.Ser370=
XM_011525442.1:c.995-2811A>C (TP53I13) XP_011523744.1:n.995-2811A>C
XM_011525443.1:c.995-2811A>C (TP53I13) XP_011523745.1:n.995-2811A>C
XM_011525444.1:c.995-2811A>C (TP53I13) XP_011523746.1:n.995-2811A>C
XM_011525445.1:c.995-2811A>C (TP53I13) XP_011523747.1:n.995-2811A>C
XM_011525446.1:c.995-2811A>C (TP53I13) XP_011523748.1:n.995-2811A>C
XM_011525447.1:c.995-2811A>C (TP53I13) XP_011523749.1:n.995-2811A>C
XM_011525448.1:c.923-2811A>C (TP53I13) XP_011523750.1:n.923-2811A>C
XM_011525449.1:c.722-2811A>C (TP53I13) XP_011523751.1:n.722-2811A>C
XM_011524684.2:c.1137T>G (GIT1) XP_011522986.1:p.Ser379=
XM_011524685.2:c.1110T>G (GIT1) XP_011522987.1:p.Ser370=
XM_024450731.1:c.1233T>G (GIT1) XP_024306499.1:p.Ser411=
XM_024450732.1:c.1233T>G (GIT1) XP_024306500.1:p.Ser411=
XM_024450733.1:c.1206T>G (GIT1) XP_024306501.1:p.Ser402=
XM_024450734.1:c.1206T>G (GIT1) XP_024306502.1:p.Ser402=
NM_001085454.2:c.1137T>G (GIT1) NP_001078923.1:p.Ser379=
NM_014030.4:c.1110T>G (GIT1) MANE Select NP_054749.2:p.Ser370=