Canonical Allele Identifier: CA3131038

Gene: TLL1

Linked Data

• dbSNP Id: rs756719999
• ExAC: 4:166981133 G / C
• gnomAD v2: 4-166981133-G-C
• gnomAD v3: 4-166059981-G-C
• gnomAD v4: 4-166059981-G-C
• MyVariant Identifiers: chr4:g.166981133G>C (hg19) ; chr4:g.166059981G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.166059981G>C , CM000666.2:g.166059981G>C	GRCh38
NC_000004.11:g.166981133G>C , CM000666.1:g.166981133G>C	GRCh37
NC_000004.10:g.167200583G>C	NCBI36
NG_016278.1:g.191724G>C
NG_016278.2:g.191724G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000061240.7:c.1847-47G>C MANE Select	ENSP00000061240.2:n.1847-47G>C
ENST00000061240.6:c.1847-47G>C	ENSP00000061240.2:n.1847-47G>C
ENST00000507499.5:c.1916-47G>C	ENSP00000426082.1:n.1916-47G>C
ENST00000509505.5:c.*1492-47G>C	ENSP00000422692.1:n.*1492-47G>C
NM_012464.4:c.1847-47G>C	NP_036596.3:n.1847-47G>C
XM_011532212.1:c.1847-47G>C	XP_011530514.1:n.1847-47G>C
XM_011532213.1:c.1700-47G>C	XP_011530515.1:n.1700-47G>C
XM_011532214.1:c.1319-47G>C	XP_011530516.1:n.1319-47G>C
XM_017008570.1:c.1700-47G>C	XP_016864059.1:n.1700-47G>C
XM_024454194.1:c.1547-47G>C	XP_024309962.1:n.1547-47G>C
XM_024454195.1:c.1547-47G>C	XP_024309963.1:n.1547-47G>C
NM_012464.5:c.1847-47G>C MANE Select	NP_036596.3:n.1847-47G>C