Canonical Allele Identifier: CA373668494

Gene: TMC1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816210G>A , CM000671.2:g.72816210G>A	GRCh38
NC_000009.11:g.75431126G>A , CM000671.1:g.75431126G>A	GRCh37
NC_000009.10:g.74620946G>A	NCBI36
NG_008213.1:g.299410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1763G>A MANE Select	ENSP00000297784.6:p.Trp588Ter
ENST00000644967.1:c.1325G>A	ENSP00000496159.1:p.Ter442=
ENST00000645053.1:c.1258-10659G>A	ENSP00000493838.1:n.1258-10659G>A
ENST00000645208.2:c.1763G>A	ENSP00000494684.1:p.Trp588Ter
ENST00000645773.1:c.1637G>A	ENSP00000493698.1:p.Trp546Ter
ENST00000645787.1:n.1906G>A
ENST00000646619.1:c.1325G>A	ENSP00000493726.1:p.Trp442Ter
ENST00000651183.1:c.1325G>A	ENSP00000498723.1:p.Trp442Ter
ENST00000297784.9:c.1763G>A	ENSP00000297784.5:p.Trp588Ter
ENST00000340019.4:c.1763G>A	ENSP00000341433.3:p.Trp588Ter
ENST00000469455.1:n.244G>A
ENST00000486417.5:n.387G>A
NM_138691.2:c.1763G>A	NP_619636.2:p.Trp588Ter
XM_011518213.1:c.2351G>A	XP_011516515.1:p.Trp784Ter
XM_017014256.1:c.1766G>A	XP_016869745.1:p.Trp589Ter
NM_138691.3:c.1763G>A MANE Select	NP_619636.2:p.Trp588Ter