Canonical Allele Identifier: CA402156619

Gene: TTR

Linked Data

• MyVariant Identifiers: chr18:g.29172904G>C (hg19) ; chr18:g.31592941G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592941G>C , CM000680.2:g.31592941G>C	GRCh38
NC_000018.9:g.29172904G>C , CM000680.1:g.29172904G>C	GRCh37
NC_000018.8:g.27426902G>C	NCBI36
NG_009490.1:g.6175G>C , LRG_416:g.6175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.115G>C MANE Select	ENSP00000237014.4:p.Ala39Pro
ENST00000610404.5:c.19G>C	ENSP00000477599.2:p.Ala7Pro
ENST00000649620.1:c.115G>C	ENSP00000497927.1:p.Ala39Pro
ENST00000237014.7:c.115G>C	ENSP00000237014.3:p.Ala39Pro
ENST00000432547.7:n.141G>C
ENST00000541025.2:n.141G>C
ENST00000610404.4:c.115G>C	ENSP00000477599.1:p.Ala39Pro
ENST00000613781.1:c.115G>C	ENSP00000479174.1:p.Ala39Pro
NM_000371.3:c.115G>C , LRG_416t1:c.115G>C	NP_000362.1:p.Ala39Pro
NM_000371.4:c.115G>C MANE Select	NP_000362.1:p.Ala39Pro