Canonical Allele Identifier: CA1276630650
Community Standard Title: NM_004257.6(TGFBRAP1):c.1122-560A>G
Gene: TGFBRAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.105281283T>C , CM000664.2:g.105281283T>C GRCh38
NC_000002.11:g.105897740T>C , CM000664.1:g.105897740T>C GRCh37
NC_000002.10:g.105264172T>C NCBI36
NG_050952.1:g.53432A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004257.6:c.1122-560A>G MANE Select NP_004248.2:n.1122-560A>G
ENST00000393359.7:c.1122-560A>G MANE Select ENSP00000377027.2:n.1122-560A>G
NM_001142621.2:c.1122-560A>G NP_001136093.1:n.1122-560A>G
NM_001142621.3:c.1122-560A>G NP_001136093.1:n.1122-560A>G
NM_001328646.1:c.1122-560A>G NP_001315575.1:n.1122-560A>G
NM_001328646.2:c.1122-560A>G NP_001315575.1:n.1122-560A>G
NM_001328646.3:c.1122-560A>G NP_001315575.1:n.1122-560A>G
NM_004257.5:c.1122-560A>G NP_004248.2:n.1122-560A>G
NR_137328.1:n.1171-560A>G
NR_137328.2:n.1250-560A>G
ENST00000258449.2:c.1122-560A>G ENSP00000258449.1:n.1122-560A>G
ENST00000393359.6:c.1122-560A>G ENSP00000377027.2:n.1122-560A>G
ENST00000595531.5:c.1122-560A>G ENSP00000471434.2:n.1122-560A>G
XM_011512193.1:c.1122-560A>G XP_011510495.1:n.1122-560A>G
XM_017005339.2:c.-158-541A>G XP_016860828.1:n.-158-541A>G