Canonical Allele Identifier: CA2122004654
Gene: TEP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20390854G>C , CM000676.2:g.20390854G>C GRCh38
NC_000014.8:g.20859013G>C , CM000676.1:g.20859013G>C GRCh37
NC_000014.7:g.19928853G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262715.10:c.2256+84C>G MANE Select ENSP00000262715.5:n.2256+84C>G
ENST00000262715.9:c.2256+84C>G ENSP00000262715.5:n.2256+84C>G
ENST00000555008.5:c.306+84C>G ENSP00000450541.1:n.306+84C>G
ENST00000555727.5:c.2256+84C>G ENSP00000451634.1:n.2256+84C>G
ENST00000556935.5:c.1932+84C>G ENSP00000452574.1:n.1932+84C>G
NM_007110.4:c.2256+84C>G NP_009041.2:n.2256+84C>G
XM_005268027.3:c.2256+84C>G XP_005268084.1:n.2256+84C>G
XM_011537110.1:c.687+84C>G XP_011535412.1:n.687+84C>G
XM_011537111.1:c.2256+84C>G XP_011535413.1:n.2256+84C>G
XR_245720.2:n.3521+84C>G
XR_429328.2:n.3549+84C>G
NM_001319035.1:c.1932+84C>G NP_001305964.1:n.1932+84C>G
XM_005268027.5:c.2256+84C>G XP_005268084.1:n.2256+84C>G
XM_011537110.2:c.687+84C>G XP_011535412.1:n.687+84C>G
XR_001750531.1:n.2444+84C>G
XR_245720.3:n.2416+84C>G
NM_007110.5:c.2256+84C>G MANE Select NP_009041.2:n.2256+84C>G
NM_001319035.2:c.1932+84C>G NP_001305964.1:n.1932+84C>G