Canonical Allele Identifier: CA1070540516

Gene: TLL1

Linked Data

• dbSNP Id: rs544485373
• gnomAD v3: 4-165909300-T-C
• gnomAD v4: 4-165909300-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.165909300T>C , CM000666.2:g.165909300T>C	GRCh38
NC_000004.11:g.166830452T>C , CM000666.1:g.166830452T>C	GRCh37
NC_000004.10:g.167049902T>C	NCBI36
NG_016278.1:g.41043T>C
NG_016278.2:g.41043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000061240.7:c.169+35227T>C MANE Select	ENSP00000061240.2:n.169+35227T>C
ENST00000061240.6:c.169+35227T>C	ENSP00000061240.2:n.169+35227T>C
ENST00000504560.5:c.170-10534T>C	ENSP00000421732.1:n.170-10534T>C
ENST00000506144.1:c.-132+34248T>C	ENSP00000423748.1:n.-132+34248T>C
ENST00000507499.5:c.169+35227T>C	ENSP00000426082.1:n.169+35227T>C
ENST00000509505.5:c.169+35227T>C	ENSP00000422692.1:n.169+35227T>C
ENST00000513213.5:c.169+35227T>C	ENSP00000422937.1:n.169+35227T>C
NM_001204760.1:c.169+35227T>C	NP_001191689.1:n.169+35227T>C
NM_012464.4:c.169+35227T>C	NP_036596.3:n.169+35227T>C
XM_011532212.1:c.169+35227T>C	XP_011530514.1:n.169+35227T>C
XM_011532213.1:c.-84-10534T>C	XP_011530515.1:n.-84-10534T>C
XM_011532214.1:c.-398+35227T>C	XP_011530516.1:n.-398+35227T>C
XM_017008570.1:c.-84-10534T>C	XP_016864059.1:n.-84-10534T>C
XM_024454194.1:c.-132+36158T>C	XP_024309962.1:n.-132+36158T>C
NM_012464.5:c.169+35227T>C MANE Select	NP_036596.3:n.169+35227T>C
NM_001204760.2:c.169+35227T>C	NP_001191689.1:n.169+35227T>C