Canonical Allele Identifier: CA193294815

Gene: TMC1

Linked Data

• ClinVar Variation Id: 748245
• ClinVar RCV Id: RCV000925026
• dbSNP Id: rs374323593
• gnomAD v4: 9-72816181-C-T
• MyVariant Identifiers: chr9:g.75431097C>T (hg19) ; chr9:g.72816181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816181C>T , CM000671.2:g.72816181C>T	GRCh38
NC_000009.11:g.75431097C>T , CM000671.1:g.75431097C>T	GRCh37
NC_000009.10:g.74620917C>T	NCBI36
NG_008213.1:g.299381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1734C>T MANE Select	ENSP00000297784.6:p.Leu578=
ENST00000644967.1:c.1296C>T	ENSP00000496159.1:p.Leu432=
ENST00000645053.1:c.1257+10671C>T	ENSP00000493838.1:n.1257+10671C>T
ENST00000645208.2:c.1734C>T	ENSP00000494684.1:p.Leu578=
ENST00000645773.1:c.1608C>T	ENSP00000493698.1:p.Leu536=
ENST00000645787.1:n.1877C>T
ENST00000646619.1:c.1296C>T	ENSP00000493726.1:p.Leu432=
ENST00000651183.1:c.1296C>T	ENSP00000498723.1:p.Leu432=
ENST00000297784.9:c.1734C>T	ENSP00000297784.5:p.Leu578=
ENST00000340019.4:c.1734C>T	ENSP00000341433.3:p.Leu578=
ENST00000469455.1:n.215C>T
ENST00000486417.5:n.358C>T
NM_138691.2:c.1734C>T	NP_619636.2:p.Leu578=
XM_011518213.1:c.2322C>T	XP_011516515.1:p.Leu774=
XM_017014256.1:c.1737C>T	XP_016869745.1:p.Leu579=
NM_138691.3:c.1734C>T MANE Select	NP_619636.2:p.Leu578=