Canonical Allele Identifier: CA110032844

Gene: TLL1

Linked Data

• dbSNP Id: rs545020738
• gnomAD v2: 4-166830293-C-T
• gnomAD v3: 4-165909141-C-T
• gnomAD v4: 4-165909141-C-T
• MyVariant Identifiers: chr4:g.166830293C>T (hg19) ; chr4:g.165909141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.165909141C>T , CM000666.2:g.165909141C>T	GRCh38
NC_000004.11:g.166830293C>T , CM000666.1:g.166830293C>T	GRCh37
NC_000004.10:g.167049743C>T	NCBI36
NG_016278.1:g.40884C>T
NG_016278.2:g.40884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000061240.7:c.169+35068C>T MANE Select	ENSP00000061240.2:n.169+35068C>T
ENST00000061240.6:c.169+35068C>T	ENSP00000061240.2:n.169+35068C>T
ENST00000504560.5:c.170-10693C>T	ENSP00000421732.1:n.170-10693C>T
ENST00000506144.1:c.-132+34089C>T	ENSP00000423748.1:n.-132+34089C>T
ENST00000507499.5:c.169+35068C>T	ENSP00000426082.1:n.169+35068C>T
ENST00000509505.5:c.169+35068C>T	ENSP00000422692.1:n.169+35068C>T
ENST00000513213.5:c.169+35068C>T	ENSP00000422937.1:n.169+35068C>T
NM_001204760.1:c.169+35068C>T	NP_001191689.1:n.169+35068C>T
NM_012464.4:c.169+35068C>T	NP_036596.3:n.169+35068C>T
XM_011532212.1:c.169+35068C>T	XP_011530514.1:n.169+35068C>T
XM_011532213.1:c.-84-10693C>T	XP_011530515.1:n.-84-10693C>T
XM_011532214.1:c.-398+35068C>T	XP_011530516.1:n.-398+35068C>T
XM_017008570.1:c.-84-10693C>T	XP_016864059.1:n.-84-10693C>T
XM_024454194.1:c.-132+35999C>T	XP_024309962.1:n.-132+35999C>T
NM_012464.5:c.169+35068C>T MANE Select	NP_036596.3:n.169+35068C>T
NM_001204760.2:c.169+35068C>T	NP_001191689.1:n.169+35068C>T