Canonical Allele Identifier: CA373669716

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435845G>T (hg19) ; chr9:g.72820929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820929G>T , CM000671.2:g.72820929G>T	GRCh38
NC_000009.11:g.75435845G>T , CM000671.1:g.75435845G>T	GRCh37
NC_000009.10:g.74625665G>T	NCBI36
NG_008213.1:g.304129G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1851G>T MANE Select	ENSP00000297784.6:p.Met617Ile
ENST00000644967.1:c.*291G>T	ENSP00000496159.1:n.*291G>T
ENST00000645053.1:c.1258-5940G>T	ENSP00000493838.1:n.1258-5940G>T
ENST00000645208.2:c.1851G>T	ENSP00000494684.1:p.Met617Ile
ENST00000645773.1:c.1725G>T	ENSP00000493698.1:p.Met575Ile
ENST00000645787.1:n.1994G>T
ENST00000646619.1:c.1413G>T	ENSP00000493726.1:p.Met471Ile
ENST00000651183.1:c.1413G>T	ENSP00000498723.1:p.Met471Ile
ENST00000297784.9:c.1851G>T	ENSP00000297784.5:p.Met617Ile
ENST00000340019.4:c.1851G>T	ENSP00000341433.3:p.Met617Ile
ENST00000469455.1:n.332G>T
ENST00000486417.5:n.749G>T
NM_138691.2:c.1851G>T	NP_619636.2:p.Met617Ile
XM_011518213.1:c.2439G>T	XP_011516515.1:p.Met813Ile
XM_017014256.1:c.1854G>T	XP_016869745.1:p.Met618Ile
NM_138691.3:c.1851G>T MANE Select	NP_619636.2:p.Met617Ile