Canonical Allele Identifier: CA13930846
Gene: TEP1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20366389A>G , CM000676.2:g.20366389A>G GRCh38
NC_000014.8:g.20834548A>G , CM000676.1:g.20834548A>G GRCh37
NC_000014.7:g.19904388A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262715.10:c.*2048T>C MANE Select ENSP00000262715.5:n.*2048T>C
ENST00000262715.9:c.*2048T>C ENSP00000262715.5:n.*2048T>C
ENST00000553365.5:c.2245T>C ENSP00000450475.1:n.2245T>C
NM_007110.4:c.*2048T>C NP_009041.2:n.*2048T>C
NM_001319035.1:c.*2048T>C NP_001305964.1:n.*2048T>C
XM_005268027.5:c.*2048T>C XP_005268084.1:n.*2048T>C
XM_011537110.2:c.*2048T>C XP_011535412.1:n.*2048T>C
XR_001750531.1:n.9995T>C
XR_245720.3:n.9958T>C
NM_007110.5:c.*2048T>C MANE Select NP_009041.2:n.*2048T>C
NM_001319035.2:c.*2048T>C NP_001305964.1:n.*2048T>C
Search 100 bp 5'
Search 100 bp 3'