Canonical Allele Identifier: CA790413948

Gene: TLL1

Linked Data

• dbSNP Id: rs1458767811
• gnomAD v3: 4-165909128-A-C
• gnomAD v4: 4-165909128-A-C
• MyVariant Identifiers: chr4:g.166830280A>C (hg19) ; chr4:g.165909128A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.165909128A>C , CM000666.2:g.165909128A>C	GRCh38
NC_000004.11:g.166830280A>C , CM000666.1:g.166830280A>C	GRCh37
NC_000004.10:g.167049730A>C	NCBI36
NG_016278.1:g.40871A>C
NG_016278.2:g.40871A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000061240.7:c.169+35055A>C MANE Select	ENSP00000061240.2:n.169+35055A>C
ENST00000061240.6:c.169+35055A>C	ENSP00000061240.2:n.169+35055A>C
ENST00000504560.5:c.170-10706A>C	ENSP00000421732.1:n.170-10706A>C
ENST00000506144.1:c.-132+34076A>C	ENSP00000423748.1:n.-132+34076A>C
ENST00000507499.5:c.169+35055A>C	ENSP00000426082.1:n.169+35055A>C
ENST00000509505.5:c.169+35055A>C	ENSP00000422692.1:n.169+35055A>C
ENST00000513213.5:c.169+35055A>C	ENSP00000422937.1:n.169+35055A>C
NM_001204760.1:c.169+35055A>C	NP_001191689.1:n.169+35055A>C
NM_012464.4:c.169+35055A>C	NP_036596.3:n.169+35055A>C
XM_011532212.1:c.169+35055A>C	XP_011530514.1:n.169+35055A>C
XM_011532213.1:c.-84-10706A>C	XP_011530515.1:n.-84-10706A>C
XM_011532214.1:c.-398+35055A>C	XP_011530516.1:n.-398+35055A>C
XM_017008570.1:c.-84-10706A>C	XP_016864059.1:n.-84-10706A>C
XM_024454194.1:c.-132+35986A>C	XP_024309962.1:n.-132+35986A>C
NM_012464.5:c.169+35055A>C MANE Select	NP_036596.3:n.169+35055A>C
NM_001204760.2:c.169+35055A>C	NP_001191689.1:n.169+35055A>C