Canonical Allele Identifier: CA373669933

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435903C>G (hg19) ; chr9:g.72820987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820987C>G , CM000671.2:g.72820987C>G	GRCh38
NC_000009.11:g.75435903C>G , CM000671.1:g.75435903C>G	GRCh37
NC_000009.10:g.74625723C>G	NCBI36
NG_008213.1:g.304187C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1909C>G MANE Select	ENSP00000297784.6:p.Leu637Val
ENST00000644967.1:c.*349C>G	ENSP00000496159.1:n.*349C>G
ENST00000645053.1:c.1258-5882C>G	ENSP00000493838.1:n.1258-5882C>G
ENST00000645208.2:c.1909C>G	ENSP00000494684.1:p.Leu637Val
ENST00000645773.1:c.1783C>G	ENSP00000493698.1:p.Leu595Val
ENST00000645787.1:n.2052C>G
ENST00000646619.1:c.1471C>G	ENSP00000493726.1:p.Leu491Val
ENST00000651183.1:c.1471C>G	ENSP00000498723.1:p.Leu491Val
ENST00000297784.9:c.1909C>G	ENSP00000297784.5:p.Leu637Val
ENST00000340019.4:c.1909C>G	ENSP00000341433.3:p.Leu637Val
ENST00000469455.1:n.390C>G
ENST00000486417.5:n.807C>G
NM_138691.2:c.1909C>G	NP_619636.2:p.Leu637Val
XM_011518213.1:c.2497C>G	XP_011516515.1:p.Leu833Val
XM_017014256.1:c.1912C>G	XP_016869745.1:p.Leu638Val
NM_138691.3:c.1909C>G MANE Select	NP_619636.2:p.Leu637Val