Canonical Allele Identifier: CA5082283

Gene: TMC1

Linked Data

• ClinVar Variation Id: 367262
• ClinVar RCV Id: RCV000293371 ; RCV000383195 ; RCV001591041
• dbSNP Id: rs151157872
• ExAC: 9:75450917 A / C
• gnomAD v2: 9-75450917-A-C
• gnomAD v3: 9-72836001-A-C
• gnomAD v4: 9-72836001-A-C
• MyVariant Identifiers: chr9:g.75450917A>C (hg19) ; chr9:g.72836001A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72836001A>C , CM000671.2:g.72836001A>C	GRCh38
NC_000009.11:g.75450917A>C , CM000671.1:g.75450917A>C	GRCh37
NC_000009.10:g.74640737A>C	NCBI36
NG_008213.1:g.319201A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.*28A>C MANE Select	ENSP00000297784.6:n.*28A>C
ENST00000644967.1:c.*751A>C	ENSP00000496159.1:n.*751A>C
ENST00000645053.1:c.*296A>C	ENSP00000493838.1:n.*296A>C
ENST00000645208.2:c.*28A>C	ENSP00000494684.1:n.*28A>C
ENST00000645787.1:n.2454A>C
ENST00000646619.1:c.1821A>C	ENSP00000493726.1:p.Val607=
ENST00000651183.1:c.1821A>C	ENSP00000498723.1:p.Val607=
ENST00000297784.9:c.*28A>C	ENSP00000297784.5:n.*28A>C
ENST00000340019.4:c.*28A>C	ENSP00000341433.3:n.*28A>C
ENST00000486417.5:n.1209A>C
NM_138691.2:c.*28A>C	NP_619636.2:n.*28A>C
XM_011518213.1:c.2899A>C	XP_011516515.1:n.2899A>C
XM_017014256.1:c.*28A>C	XP_016869745.1:n.*28A>C
NM_138691.3:c.*28A>C MANE Select	NP_619636.2:n.*28A>C