Canonical Allele Identifier: CA373668434

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75431112C>G (hg19) ; chr9:g.72816196C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816196C>G , CM000671.2:g.72816196C>G	GRCh38
NC_000009.11:g.75431112C>G , CM000671.1:g.75431112C>G	GRCh37
NC_000009.10:g.74620932C>G	NCBI36
NG_008213.1:g.299396C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1749C>G MANE Select	ENSP00000297784.6:p.Asn583Lys
ENST00000644967.1:c.1311C>G	ENSP00000496159.1:p.Asn437Lys
ENST00000645053.1:c.1258-10673C>G	ENSP00000493838.1:n.1258-10673C>G
ENST00000645208.2:c.1749C>G	ENSP00000494684.1:p.Asn583Lys
ENST00000645773.1:c.1623C>G	ENSP00000493698.1:p.Asn541Lys
ENST00000645787.1:n.1892C>G
ENST00000646619.1:c.1311C>G	ENSP00000493726.1:p.Asn437Lys
ENST00000651183.1:c.1311C>G	ENSP00000498723.1:p.Asn437Lys
ENST00000297784.9:c.1749C>G	ENSP00000297784.5:p.Asn583Lys
ENST00000340019.4:c.1749C>G	ENSP00000341433.3:p.Asn583Lys
ENST00000469455.1:n.230C>G
ENST00000486417.5:n.373C>G
NM_138691.2:c.1749C>G	NP_619636.2:p.Asn583Lys
XM_011518213.1:c.2337C>G	XP_011516515.1:p.Asn779Lys
XM_017014256.1:c.1752C>G	XP_016869745.1:p.Asn584Lys
NM_138691.3:c.1749C>G MANE Select	NP_619636.2:p.Asn583Lys