Canonical Allele Identifier: CA373670100

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435923C>G (hg19) ; chr9:g.72821007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821007C>G , CM000671.2:g.72821007C>G	GRCh38
NC_000009.11:g.75435923C>G , CM000671.1:g.75435923C>G	GRCh37
NC_000009.10:g.74625743C>G	NCBI36
NG_008213.1:g.304207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1929C>G MANE Select	ENSP00000297784.6:p.Ile643Met
ENST00000644967.1:c.*369C>G	ENSP00000496159.1:n.*369C>G
ENST00000645053.1:c.1258-5862C>G	ENSP00000493838.1:n.1258-5862C>G
ENST00000645208.2:c.1929C>G	ENSP00000494684.1:p.Ile643Met
ENST00000645773.1:c.1803C>G	ENSP00000493698.1:p.Ile601Met
ENST00000645787.1:n.2072C>G
ENST00000646619.1:c.1491C>G	ENSP00000493726.1:p.Ile497Met
ENST00000651183.1:c.1491C>G	ENSP00000498723.1:p.Ile497Met
ENST00000297784.9:c.1929C>G	ENSP00000297784.5:p.Ile643Met
ENST00000340019.4:c.1929C>G	ENSP00000341433.3:p.Ile643Met
ENST00000469455.1:n.410C>G
ENST00000486417.5:n.827C>G
NM_138691.2:c.1929C>G	NP_619636.2:p.Ile643Met
XM_011518213.1:c.2517C>G	XP_011516515.1:p.Ile839Met
XM_017014256.1:c.1932C>G	XP_016869745.1:p.Ile644Met
NM_138691.3:c.1929C>G MANE Select	NP_619636.2:p.Ile643Met