Canonical Allele Identifier: CA3732861

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32042497C>G , CM000668.2:g.32042497C>G	GRCh38
NC_000006.11:g.32010274C>G , CM000668.1:g.32010274C>G	GRCh37
NC_000006.10:g.32118253C>G	NCBI36
NG_007941.2:g.9190C>G
NG_008337.2:g.71878G>C
NG_007941.3:g.9193C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644971.2:c.12168G>C MANE Select	ENSP00000496448.1:p.Leu4056=
ENST00000647633.1:c.12909G>C	ENSP00000497649.1:p.Leu4303=
ENST00000375244.7:c.12168G>C	ENSP00000364393.3:p.Leu4056=
ENST00000451343.4:c.1455G>C	ENSP00000407685.1:p.Leu485=
ENST00000490077.5:n.1995G>C
ENST00000498094.1:n.653G>C
ENST00000611016.2:c.5322G>C	ENSP00000483409.1:p.Leu1774=
NM_019105.6:c.12162G>C	NP_061978.6:p.Leu4054=
NM_032470.3:c.1455G>C	NP_115859.2:p.Leu485=
NM_001365276.1:c.12168G>C	NP_001352205.1:p.Leu4056=
NM_019105.7:c.12162G>C	NP_061978.6:p.Leu4054=
NM_001365276.2:c.12168G>C MANE Select	NP_001352205.1:p.Leu4056=
NM_019105.8:c.12162G>C	NP_061978.6:p.Leu4054=
NM_032470.4:c.1455G>C	NP_115859.2:p.Leu485=