Canonical Allele Identifier: CA402156829

Gene: TTR

Linked Data

• ClinVar Variation Id: 644083
• ClinVar RCV Id: RCV000797923 ; RCV002406755 ; RCV003117589
• dbSNP Id: rs1598844213
• MyVariant Identifiers: chr18:g.29172962A>C (hg19) ; chr18:g.31592999A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592999A>C , CM000680.2:g.31592999A>C	GRCh38
NC_000018.9:g.29172962A>C , CM000680.1:g.29172962A>C	GRCh37
NC_000018.8:g.27426960A>C	NCBI36
NG_009490.1:g.6233A>C , LRG_416:g.6233A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.173A>C MANE Select	ENSP00000237014.4:p.Asp58Ala
ENST00000610404.5:c.77A>C	ENSP00000477599.2:p.Asp26Ala
ENST00000649620.1:c.173A>C	ENSP00000497927.1:p.Asp58Ala
ENST00000237014.7:c.173A>C	ENSP00000237014.3:p.Asp58Ala
ENST00000432547.7:n.199A>C
ENST00000541025.2:n.199A>C
ENST00000610404.4:c.173A>C	ENSP00000477599.1:p.Asp58Ala
ENST00000613781.1:c.173A>C	ENSP00000479174.1:p.Asp58Ala
NM_000371.3:c.173A>C , LRG_416t1:c.173A>C	NP_000362.1:p.Asp58Ala
NM_000371.4:c.173A>C MANE Select	NP_000362.1:p.Asp58Ala