Canonical Allele Identifier: CA1070530563

Gene: TLL1

Linked Data

• dbSNP Id: rs1737550372
• gnomAD v3: 4-166008775-A-G
• gnomAD v4: 4-166008775-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.166008775A>G , CM000666.2:g.166008775A>G	GRCh38
NC_000004.11:g.166929927A>G , CM000666.1:g.166929927A>G	GRCh37
NC_000004.10:g.167149377A>G	NCBI36
NG_016278.1:g.140518A>G
NG_016278.2:g.140518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000061240.7:c.917+727A>G MANE Select	ENSP00000061240.2:n.917+727A>G
ENST00000061240.6:c.917+727A>G	ENSP00000061240.2:n.917+727A>G
ENST00000507499.5:c.917+727A>G	ENSP00000426082.1:n.917+727A>G
ENST00000509505.5:c.*562+727A>G	ENSP00000422692.1:n.*562+727A>G
ENST00000513213.5:c.917+727A>G	ENSP00000422937.1:n.917+727A>G
NM_001204760.1:c.917+727A>G	NP_001191689.1:n.917+727A>G
NM_012464.4:c.917+727A>G	NP_036596.3:n.917+727A>G
XM_011532212.1:c.917+727A>G	XP_011530514.1:n.917+727A>G
XM_011532213.1:c.770+727A>G	XP_011530515.1:n.770+727A>G
XM_011532214.1:c.389+727A>G	XP_011530516.1:n.389+727A>G
XM_017008570.1:c.770+727A>G	XP_016864059.1:n.770+727A>G
XM_024454194.1:c.617+727A>G	XP_024309962.1:n.617+727A>G
XM_024454195.1:c.617+727A>G	XP_024309963.1:n.617+727A>G
NM_012464.5:c.917+727A>G MANE Select	NP_036596.3:n.917+727A>G
NM_001204760.2:c.917+727A>G	NP_001191689.1:n.917+727A>G