Canonical Allele Identifier: CA373669711

Gene: TMC1

Linked Data

• ClinVar Variation Id: 1710801
• ClinVar RCV Id: RCV002292088
• MyVariant Identifiers: chr9:g.75435843A>T (hg19) ; chr9:g.72820927A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820927A>T , CM000671.2:g.72820927A>T	GRCh38
NC_000009.11:g.75435843A>T , CM000671.1:g.75435843A>T	GRCh37
NC_000009.10:g.74625663A>T	NCBI36
NG_008213.1:g.304127A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1849A>T MANE Select	ENSP00000297784.6:p.Met617Leu
ENST00000644967.1:c.*289A>T	ENSP00000496159.1:n.*289A>T
ENST00000645053.1:c.1258-5942A>T	ENSP00000493838.1:n.1258-5942A>T
ENST00000645208.2:c.1849A>T	ENSP00000494684.1:p.Met617Leu
ENST00000645773.1:c.1723A>T	ENSP00000493698.1:p.Met575Leu
ENST00000645787.1:n.1992A>T
ENST00000646619.1:c.1411A>T	ENSP00000493726.1:p.Met471Leu
ENST00000651183.1:c.1411A>T	ENSP00000498723.1:p.Met471Leu
ENST00000297784.9:c.1849A>T	ENSP00000297784.5:p.Met617Leu
ENST00000340019.4:c.1849A>T	ENSP00000341433.3:p.Met617Leu
ENST00000469455.1:n.330A>T
ENST00000486417.5:n.747A>T
NM_138691.2:c.1849A>T	NP_619636.2:p.Met617Leu
XM_011518213.1:c.2437A>T	XP_011516515.1:p.Met813Leu
XM_017014256.1:c.1852A>T	XP_016869745.1:p.Met618Leu
NM_138691.3:c.1849A>T MANE Select	NP_619636.2:p.Met617Leu