Canonical Allele Identifier: CA116645

Gene: TLL1

Linked Data

• ClinVar Variation Id: 4076
• ClinVar RCV Id: RCV000004291
• dbSNP Id: rs137852953
• gnomAD v2: 4-166981218-A-G
• gnomAD v4: 4-166060066-A-G
• MyVariant Identifiers: chr4:g.166981218A>G (hg19) ; chr4:g.166060066A>G (hg38)
• PubMed: PMID:18830233

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