Canonical Allele Identifier: CA116645
Gene: TLL1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.166060066A>G
GRCh37 chr4:g.166981218A>G
Revel Score:
ENST00000061240 (MANE Select) 0.269
ENST00000507499 0.269
gnomAD v2:
4:166981218 A / G
gnomAD v4:
chr4-166060066-A-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar Allele:
19115
ClinVar RCV:
RCV000004291
ClinVar Variation:
4076
dbSNP:
137852953
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.166060066A>G , CM000666.2:g.166060066A>G GRCh38
NC_000004.11:g.166981218A>G , CM000666.1:g.166981218A>G GRCh37
NC_000004.10:g.167200668A>G NCBI36
NG_016278.1:g.191809A>G
NG_016278.2:g.191809A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000061240.7:c.1885A>G MANE Select ENSP00000061240.2:p.Ile629Val
ENST00000061240.6:c.1885A>G ENSP00000061240.2:p.Ile629Val
ENST00000507499.5:c.1954A>G ENSP00000426082.1:p.Ile652Val
ENST00000509505.5:c.*1530A>G ENSP00000422692.1:n.*1530A>G
NM_012464.4:c.1885A>G NP_036596.3:p.Ile629Val
XM_011532212.1:c.1885A>G XP_011530514.1:p.Ile629Val
XM_011532213.1:c.1738A>G XP_011530515.1:p.Ile580Val
XM_011532214.1:c.1357A>G XP_011530516.1:p.Ile453Val
XM_017008570.1:c.1738A>G XP_016864059.1:p.Ile580Val
XM_024454194.1:c.1585A>G XP_024309962.1:p.Ile529Val
XM_024454195.1:c.1585A>G XP_024309963.1:p.Ile529Val
NM_012464.5:c.1885A>G MANE Select NP_036596.3:p.Ile629Val
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