Canonical Allele Identifier: CA373669943

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435904T>G (hg19) ; chr9:g.72820988T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820988T>G , CM000671.2:g.72820988T>G	GRCh38
NC_000009.11:g.75435904T>G , CM000671.1:g.75435904T>G	GRCh37
NC_000009.10:g.74625724T>G	NCBI36
NG_008213.1:g.304188T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1910T>G MANE Select	ENSP00000297784.6:p.Leu637Arg
ENST00000644967.1:c.*350T>G	ENSP00000496159.1:n.*350T>G
ENST00000645053.1:c.1258-5881T>G	ENSP00000493838.1:n.1258-5881T>G
ENST00000645208.2:c.1910T>G	ENSP00000494684.1:p.Leu637Arg
ENST00000645773.1:c.1784T>G	ENSP00000493698.1:p.Leu595Arg
ENST00000645787.1:n.2053T>G
ENST00000646619.1:c.1472T>G	ENSP00000493726.1:p.Leu491Arg
ENST00000651183.1:c.1472T>G	ENSP00000498723.1:p.Leu491Arg
ENST00000297784.9:c.1910T>G	ENSP00000297784.5:p.Leu637Arg
ENST00000340019.4:c.1910T>G	ENSP00000341433.3:p.Leu637Arg
ENST00000469455.1:n.391T>G
ENST00000486417.5:n.808T>G
NM_138691.2:c.1910T>G	NP_619636.2:p.Leu637Arg
XM_011518213.1:c.2498T>G	XP_011516515.1:p.Leu833Arg
XM_017014256.1:c.1913T>G	XP_016869745.1:p.Leu638Arg
NM_138691.3:c.1910T>G MANE Select	NP_619636.2:p.Leu637Arg