Canonical Allele Identifier: CA373497673

Gene: TMC1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72751896G>C , CM000671.2:g.72751896G>C	GRCh38
NC_000009.11:g.75366812G>C , CM000671.1:g.75366812G>C	GRCh37
NC_000009.10:g.74556632G>C	NCBI36
NG_008213.1:g.235096G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.582G>C MANE Select	ENSP00000297784.6:p.Trp194Cys
ENST00000644967.1:c.144G>C	ENSP00000496159.1:p.Trp48Cys
ENST00000645053.1:c.144G>C	ENSP00000493838.1:p.Trp48Cys
ENST00000645208.2:c.582G>C	ENSP00000494684.1:p.Trp194Cys
ENST00000645773.1:c.456G>C	ENSP00000493698.1:p.Trp152Cys
ENST00000645787.1:n.622G>C
ENST00000646619.1:c.144G>C	ENSP00000493726.1:p.Trp48Cys
ENST00000650689.1:n.880G>C
ENST00000651183.1:c.144G>C	ENSP00000498723.1:p.Trp48Cys
ENST00000297784.9:c.582G>C	ENSP00000297784.5:p.Trp194Cys
ENST00000340019.4:c.582G>C	ENSP00000341433.3:p.Trp194Cys
NM_138691.2:c.582G>C	NP_619636.2:p.Trp194Cys
XM_011518213.1:c.1170G>C	XP_011516515.1:p.Trp390Cys
XM_017014256.1:c.585G>C	XP_016869745.1:p.Trp195Cys
NM_138691.3:c.582G>C MANE Select	NP_619636.2:p.Trp194Cys