Canonical Allele Identifier: CA373669707

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435840G>T (hg19) ; chr9:g.72820924G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820924G>T , CM000671.2:g.72820924G>T	GRCh38
NC_000009.11:g.75435840G>T , CM000671.1:g.75435840G>T	GRCh37
NC_000009.10:g.74625660G>T	NCBI36
NG_008213.1:g.304124G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1846G>T MANE Select	ENSP00000297784.6:p.Val616Phe
ENST00000644967.1:c.*286G>T	ENSP00000496159.1:n.*286G>T
ENST00000645053.1:c.1258-5945G>T	ENSP00000493838.1:n.1258-5945G>T
ENST00000645208.2:c.1846G>T	ENSP00000494684.1:p.Val616Phe
ENST00000645773.1:c.1720G>T	ENSP00000493698.1:p.Val574Phe
ENST00000645787.1:n.1989G>T
ENST00000646619.1:c.1408G>T	ENSP00000493726.1:p.Val470Phe
ENST00000651183.1:c.1408G>T	ENSP00000498723.1:p.Val470Phe
ENST00000297784.9:c.1846G>T	ENSP00000297784.5:p.Val616Phe
ENST00000340019.4:c.1846G>T	ENSP00000341433.3:p.Val616Phe
ENST00000469455.1:n.327G>T
ENST00000486417.5:n.744G>T
NM_138691.2:c.1846G>T	NP_619636.2:p.Val616Phe
XM_011518213.1:c.2434G>T	XP_011516515.1:p.Val812Phe
XM_017014256.1:c.1849G>T	XP_016869745.1:p.Val617Phe
NM_138691.3:c.1846G>T MANE Select	NP_619636.2:p.Val616Phe