Canonical Allele Identifier: CA367696284
Community Standard Title: NM_153033.5(KCTD7):c.393C>G (p.Tyr131Ter)
Gene: KCTD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638331C>G , CM000669.2:g.66638331C>G GRCh38
NC_000007.13:g.66103318C>G , CM000669.1:g.66103318C>G GRCh37
NC_000007.12:g.65740753C>G NCBI36
NG_028110.1:g.14451C>G
NG_028110.2:g.14451C>G

Transcript Alleles

HGVS Amino-acid Change
NM_153033.5:c.393C>G MANE Select NP_694578.1:p.Tyr131Ter
ENST00000639828.2:c.393C>G MANE Select ENSP00000492240.1:p.Tyr131Ter
NM_001167961.2:c.393C>G NP_001161433.1:p.Tyr131Ter
NM_153033.4:c.393C>G NP_694578.1:p.Tyr131Ter
ENST00000275532.7:c.393C>G ENSP00000275532.3:p.Tyr131Ter
ENST00000275532.8:c.393C>G ENSP00000275532.4:p.Tyr131Ter
ENST00000443322.1:c.393C>G ENSP00000411624.1:p.Tyr131Ter
ENST00000449064.5:c.223C>G ENSP00000388463.1:p.Leu75Val
ENST00000449064.6:c.371C>G
ENST00000503687.1:c.223C>G ENSP00000421074.1:p.Leu75Val
ENST00000503687.2:c.223C>G ENSP00000421074.1:p.Leu75Val
ENST00000638524.1:c.218C>G
ENST00000638540.1:c.197C>G
ENST00000639879.1:c.393C>G ENSP00000492161.1:p.Tyr131Ter
ENST00000640234.1:c.263C>G
ENST00000640385.1:c.393C>G ENSP00000491193.1:p.Tyr131Ter
ENST00000640851.1:c.393C>G ENSP00000492577.1:p.Tyr131Ter