Canonical Allele Identifier: CA373504243

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75403258G>A (hg19) ; chr9:g.72788342G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72788342G>A , CM000671.2:g.72788342G>A	GRCh38
NC_000009.11:g.75403258G>A , CM000671.1:g.75403258G>A	GRCh37
NC_000009.10:g.74593078G>A	NCBI36
NG_008213.1:g.271542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.888G>A MANE Select	ENSP00000297784.6:p.Met296Ile
ENST00000644967.1:c.450G>A	ENSP00000496159.1:p.Met150Ile
ENST00000645053.1:c.450G>A	ENSP00000493838.1:p.Met150Ile
ENST00000645208.2:c.888G>A	ENSP00000494684.1:p.Met296Ile
ENST00000645773.1:c.762G>A	ENSP00000493698.1:p.Met254Ile
ENST00000645787.1:n.928G>A
ENST00000646619.1:c.450G>A	ENSP00000493726.1:p.Met150Ile
ENST00000650689.1:n.1186G>A
ENST00000651183.1:c.450G>A	ENSP00000498723.1:p.Met150Ile
ENST00000297784.9:c.888G>A	ENSP00000297784.5:p.Met296Ile
ENST00000340019.4:c.888G>A	ENSP00000341433.3:p.Met296Ile
NM_138691.2:c.888G>A	NP_619636.2:p.Met296Ile
XM_011518213.1:c.1476G>A	XP_011516515.1:p.Met492Ile
XM_017014256.1:c.891G>A	XP_016869745.1:p.Met297Ile
NM_138691.3:c.888G>A MANE Select	NP_619636.2:p.Met296Ile