Canonical Allele Identifier: CA373668196

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75431059C>A (hg19) ; chr9:g.72816143C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816143C>A , CM000671.2:g.72816143C>A	GRCh38
NC_000009.11:g.75431059C>A , CM000671.1:g.75431059C>A	GRCh37
NC_000009.10:g.74620879C>A	NCBI36
NG_008213.1:g.299343C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1696C>A MANE Select	ENSP00000297784.6:p.Pro566Thr
ENST00000644967.1:c.1258C>A	ENSP00000496159.1:p.Pro420Thr
ENST00000645053.1:c.1257+10633C>A	ENSP00000493838.1:n.1257+10633C>A
ENST00000645208.2:c.1696C>A	ENSP00000494684.1:p.Pro566Thr
ENST00000645773.1:c.1570C>A	ENSP00000493698.1:p.Pro524Thr
ENST00000645787.1:n.1839C>A
ENST00000646619.1:c.1258C>A	ENSP00000493726.1:p.Pro420Thr
ENST00000651183.1:c.1258C>A	ENSP00000498723.1:p.Pro420Thr
ENST00000297784.9:c.1696C>A	ENSP00000297784.5:p.Pro566Thr
ENST00000340019.4:c.1696C>A	ENSP00000341433.3:p.Pro566Thr
ENST00000469455.1:n.177C>A
ENST00000486417.5:n.320C>A
NM_138691.2:c.1696C>A	NP_619636.2:p.Pro566Thr
XM_011518213.1:c.2284C>A	XP_011516515.1:p.Pro762Thr
XM_017014256.1:c.1699C>A	XP_016869745.1:p.Pro567Thr
NM_138691.3:c.1696C>A MANE Select	NP_619636.2:p.Pro566Thr