Canonical Allele Identifier: CA373668350
Gene: TMC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72816176G>C , CM000671.2:g.72816176G>C GRCh38
NC_000009.11:g.75431092G>C , CM000671.1:g.75431092G>C GRCh37
NC_000009.10:g.74620912G>C NCBI36
NG_008213.1:g.299376G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1729G>C MANE Select ENSP00000297784.6:p.Val577Leu
ENST00000644967.1:c.1291G>C ENSP00000496159.1:p.Val431Leu
ENST00000645053.1:c.1257+10666G>C ENSP00000493838.1:n.1257+10666G>C
ENST00000645208.2:c.1729G>C ENSP00000494684.1:p.Val577Leu
ENST00000645773.1:c.1603G>C ENSP00000493698.1:p.Val535Leu
ENST00000645787.1:n.1872G>C
ENST00000646619.1:c.1291G>C ENSP00000493726.1:p.Val431Leu
ENST00000651183.1:c.1291G>C ENSP00000498723.1:p.Val431Leu
ENST00000297784.9:c.1729G>C ENSP00000297784.5:p.Val577Leu
ENST00000340019.4:c.1729G>C ENSP00000341433.3:p.Val577Leu
ENST00000469455.1:n.210G>C
ENST00000486417.5:n.353G>C
NM_138691.2:c.1729G>C NP_619636.2:p.Val577Leu
XM_011518213.1:c.2317G>C XP_011516515.1:p.Val773Leu
XM_017014256.1:c.1732G>C XP_016869745.1:p.Val578Leu
NM_138691.3:c.1729G>C MANE Select NP_619636.2:p.Val577Leu