Canonical Allele Identifier: CA465492653

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435857T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820941T>G , CM000671.2:g.72820941T>G	GRCh38
NC_000009.11:g.75435857T>G , CM000671.1:g.75435857T>G	GRCh37
NC_000009.10:g.74625677T>G	NCBI36
NG_008213.1:g.304141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1863T>G MANE Select	ENSP00000297784.6:p.Val621=
ENST00000644967.1:c.*303T>G	ENSP00000496159.1:n.*303T>G
ENST00000645053.1:c.1258-5928T>G	ENSP00000493838.1:n.1258-5928T>G
ENST00000645208.2:c.1863T>G	ENSP00000494684.1:p.Val621=
ENST00000645773.1:c.1737T>G	ENSP00000493698.1:p.Val579=
ENST00000645787.1:n.2006T>G
ENST00000646619.1:c.1425T>G	ENSP00000493726.1:p.Val475=
ENST00000651183.1:c.1425T>G	ENSP00000498723.1:p.Val475=
ENST00000297784.9:c.1863T>G	ENSP00000297784.5:p.Val621=
ENST00000340019.4:c.1863T>G	ENSP00000341433.3:p.Val621=
ENST00000469455.1:n.344T>G
ENST00000486417.5:n.761T>G
NM_138691.2:c.1863T>G	NP_619636.2:p.Val621=
XM_011518213.1:c.2451T>G	XP_011516515.1:p.Val817=
XM_017014256.1:c.1866T>G	XP_016869745.1:p.Val622=
NM_138691.3:c.1863T>G MANE Select	NP_619636.2:p.Val621=