Canonical Allele Identifier: CA13930851
Gene: TEP1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.20390854G>A
GRCh37 chr14:g.20859013G>A
gnomAD v2:
14:20859013 G / A
gnomAD v3:
14:20390854 G / A
gnomAD v4:
chr14-20390854-G-A
Joint Max Group AF 0.79914397 (AFR)
Genomes Max Group AF 0.79120229 (AFR)
Exomes Max Group AF 0.80403617 (AFR)
dbSNP:
872072
JSON-LD

Genomic Alleles

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

Transcript Alleles

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