Canonical Allele Identifier: CA373670229

Gene: TMC1

Linked Data

• dbSNP Id: rs1828862280
• MyVariant Identifiers: chr9:g.75435940T>G (hg19) ; chr9:g.72821024T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821024T>G , CM000671.2:g.72821024T>G	GRCh38
NC_000009.11:g.75435940T>G , CM000671.1:g.75435940T>G	GRCh37
NC_000009.10:g.74625760T>G	NCBI36
NG_008213.1:g.304224T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1946T>G MANE Select	ENSP00000297784.6:p.Met649Arg
ENST00000644967.1:c.*386T>G	ENSP00000496159.1:n.*386T>G
ENST00000645053.1:c.1258-5845T>G	ENSP00000493838.1:n.1258-5845T>G
ENST00000645208.2:c.1946T>G	ENSP00000494684.1:p.Met649Arg
ENST00000645773.1:c.1820T>G	ENSP00000493698.1:p.Met607Arg
ENST00000645787.1:n.2089T>G
ENST00000646619.1:c.1508T>G	ENSP00000493726.1:p.Met503Arg
ENST00000651183.1:c.1508T>G	ENSP00000498723.1:p.Met503Arg
ENST00000297784.9:c.1946T>G	ENSP00000297784.5:p.Met649Arg
ENST00000340019.4:c.1946T>G	ENSP00000341433.3:p.Met649Arg
ENST00000469455.1:n.427T>G
ENST00000486417.5:n.844T>G
NM_138691.2:c.1946T>G	NP_619636.2:p.Met649Arg
XM_011518213.1:c.2534T>G	XP_011516515.1:p.Met845Arg
XM_017014256.1:c.1949T>G	XP_016869745.1:p.Met650Arg
NM_138691.3:c.1946T>G MANE Select	NP_619636.2:p.Met649Arg