Canonical Allele Identifier: CA373668390

Gene: TMC1

Linked Data

• gnomAD v4: 9-72816185-C-G
• MyVariant Identifiers: chr9:g.75431101C>G (hg19) ; chr9:g.72816185C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816185C>G , CM000671.2:g.72816185C>G	GRCh38
NC_000009.11:g.75431101C>G , CM000671.1:g.75431101C>G	GRCh37
NC_000009.10:g.74620921C>G	NCBI36
NG_008213.1:g.299385C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1738C>G MANE Select	ENSP00000297784.6:p.Leu580Val
ENST00000644967.1:c.1300C>G	ENSP00000496159.1:p.Leu434Val
ENST00000645053.1:c.1257+10675C>G	ENSP00000493838.1:n.1257+10675C>G
ENST00000645208.2:c.1738C>G	ENSP00000494684.1:p.Leu580Val
ENST00000645773.1:c.1612C>G	ENSP00000493698.1:p.Leu538Val
ENST00000645787.1:n.1881C>G
ENST00000646619.1:c.1300C>G	ENSP00000493726.1:p.Leu434Val
ENST00000651183.1:c.1300C>G	ENSP00000498723.1:p.Leu434Val
ENST00000297784.9:c.1738C>G	ENSP00000297784.5:p.Leu580Val
ENST00000340019.4:c.1738C>G	ENSP00000341433.3:p.Leu580Val
ENST00000469455.1:n.219C>G
ENST00000486417.5:n.362C>G
NM_138691.2:c.1738C>G	NP_619636.2:p.Leu580Val
XM_011518213.1:c.2326C>G	XP_011516515.1:p.Leu776Val
XM_017014256.1:c.1741C>G	XP_016869745.1:p.Leu581Val
NM_138691.3:c.1738C>G MANE Select	NP_619636.2:p.Leu580Val