Canonical Allele Identifier: CA373670050

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435915C>A (hg19) ; chr9:g.72820999C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820999C>A , CM000671.2:g.72820999C>A	GRCh38
NC_000009.11:g.75435915C>A , CM000671.1:g.75435915C>A	GRCh37
NC_000009.10:g.74625735C>A	NCBI36
NG_008213.1:g.304199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1921C>A MANE Select	ENSP00000297784.6:p.Leu641Met
ENST00000644967.1:c.*361C>A	ENSP00000496159.1:n.*361C>A
ENST00000645053.1:c.1258-5870C>A	ENSP00000493838.1:n.1258-5870C>A
ENST00000645208.2:c.1921C>A	ENSP00000494684.1:p.Leu641Met
ENST00000645773.1:c.1795C>A	ENSP00000493698.1:p.Leu599Met
ENST00000645787.1:n.2064C>A
ENST00000646619.1:c.1483C>A	ENSP00000493726.1:p.Leu495Met
ENST00000651183.1:c.1483C>A	ENSP00000498723.1:p.Leu495Met
ENST00000297784.9:c.1921C>A	ENSP00000297784.5:p.Leu641Met
ENST00000340019.4:c.1921C>A	ENSP00000341433.3:p.Leu641Met
ENST00000469455.1:n.402C>A
ENST00000486417.5:n.819C>A
NM_138691.2:c.1921C>A	NP_619636.2:p.Leu641Met
XM_011518213.1:c.2509C>A	XP_011516515.1:p.Leu837Met
XM_017014256.1:c.1924C>A	XP_016869745.1:p.Leu642Met
NM_138691.3:c.1921C>A MANE Select	NP_619636.2:p.Leu641Met