Canonical Allele Identifier: CA109787509

Gene: TLL1

Linked Data

• dbSNP Id: rs983191813
• gnomAD v2: 4-166981118-A-G
• gnomAD v3: 4-166059966-A-G
• gnomAD v4: 4-166059966-A-G
• MyVariant Identifiers: chr4:g.166981118A>G (hg19) ; chr4:g.166059966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.166059966A>G , CM000666.2:g.166059966A>G	GRCh38
NC_000004.11:g.166981118A>G , CM000666.1:g.166981118A>G	GRCh37
NC_000004.10:g.167200568A>G	NCBI36
NG_016278.1:g.191709A>G
NG_016278.2:g.191709A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000061240.7:c.1847-62A>G MANE Select	ENSP00000061240.2:n.1847-62A>G
ENST00000061240.6:c.1847-62A>G	ENSP00000061240.2:n.1847-62A>G
ENST00000507499.5:c.1916-62A>G	ENSP00000426082.1:n.1916-62A>G
ENST00000509505.5:c.*1492-62A>G	ENSP00000422692.1:n.*1492-62A>G
NM_012464.4:c.1847-62A>G	NP_036596.3:n.1847-62A>G
XM_011532212.1:c.1847-62A>G	XP_011530514.1:n.1847-62A>G
XM_011532213.1:c.1700-62A>G	XP_011530515.1:n.1700-62A>G
XM_011532214.1:c.1319-62A>G	XP_011530516.1:n.1319-62A>G
XM_017008570.1:c.1700-62A>G	XP_016864059.1:n.1700-62A>G
XM_024454194.1:c.1547-62A>G	XP_024309962.1:n.1547-62A>G
XM_024454195.1:c.1547-62A>G	XP_024309963.1:n.1547-62A>G
NM_012464.5:c.1847-62A>G MANE Select	NP_036596.3:n.1847-62A>G