Canonical Allele Identifier: CA402156801

Gene: TTR

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592988A>C , CM000680.2:g.31592988A>C	GRCh38
NC_000018.9:g.29172951A>C , CM000680.1:g.29172951A>C	GRCh37
NC_000018.8:g.27426949A>C	NCBI36
NG_009490.1:g.6222A>C , LRG_416:g.6222A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000371.4:c.162A>C MANE Select	NP_000362.1:p.Arg54Ser
ENST00000237014.8:c.162A>C MANE Select	ENSP00000237014.4:p.Arg54Ser
NM_000371.3:c.162A>C , LRG_416t1:c.162A>C	NP_000362.1:p.Arg54Ser
ENST00000237014.7:c.162A>C	ENSP00000237014.3:p.Arg54Ser
ENST00000432547.7:n.188A>C
ENST00000541025.2:n.188A>C
ENST00000610404.4:c.162A>C	ENSP00000477599.1:p.Arg54Ser
ENST00000610404.5:c.66A>C	ENSP00000477599.2:p.Arg22Ser
ENST00000613781.1:c.162A>C	ENSP00000479174.1:p.Arg54Ser
ENST00000649620.1:c.162A>C	ENSP00000497927.1:p.Arg54Ser