Canonical Allele Identifier: CA373669748

Gene: TMC1

Linked Data

• dbSNP Id: rs1387585272
• gnomAD v4: 9-72820943-C-T
• MyVariant Identifiers: chr9:g.75435859C>T (hg19) ; chr9:g.72820943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820943C>T , CM000671.2:g.72820943C>T	GRCh38
NC_000009.11:g.75435859C>T , CM000671.1:g.75435859C>T	GRCh37
NC_000009.10:g.74625679C>T	NCBI36
NG_008213.1:g.304143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1865C>T MANE Select	ENSP00000297784.6:p.Pro622Leu
ENST00000644967.1:c.*305C>T	ENSP00000496159.1:n.*305C>T
ENST00000645053.1:c.1258-5926C>T	ENSP00000493838.1:n.1258-5926C>T
ENST00000645208.2:c.1865C>T	ENSP00000494684.1:p.Pro622Leu
ENST00000645773.1:c.1739C>T	ENSP00000493698.1:p.Pro580Leu
ENST00000645787.1:n.2008C>T
ENST00000646619.1:c.1427C>T	ENSP00000493726.1:p.Pro476Leu
ENST00000651183.1:c.1427C>T	ENSP00000498723.1:p.Pro476Leu
ENST00000297784.9:c.1865C>T	ENSP00000297784.5:p.Pro622Leu
ENST00000340019.4:c.1865C>T	ENSP00000341433.3:p.Pro622Leu
ENST00000469455.1:n.346C>T
ENST00000486417.5:n.763C>T
NM_138691.2:c.1865C>T	NP_619636.2:p.Pro622Leu
XM_011518213.1:c.2453C>T	XP_011516515.1:p.Pro818Leu
XM_017014256.1:c.1868C>T	XP_016869745.1:p.Pro623Leu
NM_138691.3:c.1865C>T MANE Select	NP_619636.2:p.Pro622Leu