Canonical Allele Identifier: CA1070530578

Gene: TLL1

Linked Data

• gnomAD v3: 4-166008798-A-C
• gnomAD v4: 4-166008798-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.166008798A>C , CM000666.2:g.166008798A>C	GRCh38
NC_000004.11:g.166929950A>C , CM000666.1:g.166929950A>C	GRCh37
NC_000004.10:g.167149400A>C	NCBI36
NG_016278.1:g.140541A>C
NG_016278.2:g.140541A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000061240.7:c.917+750A>C MANE Select	ENSP00000061240.2:n.917+750A>C
ENST00000061240.6:c.917+750A>C	ENSP00000061240.2:n.917+750A>C
ENST00000507499.5:c.917+750A>C	ENSP00000426082.1:n.917+750A>C
ENST00000509505.5:c.*562+750A>C	ENSP00000422692.1:n.*562+750A>C
ENST00000513213.5:c.917+750A>C	ENSP00000422937.1:n.917+750A>C
NM_001204760.1:c.917+750A>C	NP_001191689.1:n.917+750A>C
NM_012464.4:c.917+750A>C	NP_036596.3:n.917+750A>C
XM_011532212.1:c.917+750A>C	XP_011530514.1:n.917+750A>C
XM_011532213.1:c.770+750A>C	XP_011530515.1:n.770+750A>C
XM_011532214.1:c.389+750A>C	XP_011530516.1:n.389+750A>C
XM_017008570.1:c.770+750A>C	XP_016864059.1:n.770+750A>C
XM_024454194.1:c.617+750A>C	XP_024309962.1:n.617+750A>C
XM_024454195.1:c.617+750A>C	XP_024309963.1:n.617+750A>C
NM_012464.5:c.917+750A>C MANE Select	NP_036596.3:n.917+750A>C
NM_001204760.2:c.917+750A>C	NP_001191689.1:n.917+750A>C