Canonical Allele Identifier: CA373668193

Gene: TMC1

Linked Data

• ClinVar Variation Id: 2632373
• ClinVar RCV Id: RCV004528637
• gnomAD v4: 9-72816143-C-T
• MyVariant Identifiers: chr9:g.75431059C>T (hg19) ; chr9:g.72816143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816143C>T , CM000671.2:g.72816143C>T	GRCh38
NC_000009.11:g.75431059C>T , CM000671.1:g.75431059C>T	GRCh37
NC_000009.10:g.74620879C>T	NCBI36
NG_008213.1:g.299343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1696C>T MANE Select	ENSP00000297784.6:p.Pro566Ser
ENST00000644967.1:c.1258C>T	ENSP00000496159.1:p.Pro420Ser
ENST00000645053.1:c.1257+10633C>T	ENSP00000493838.1:n.1257+10633C>T
ENST00000645208.2:c.1696C>T	ENSP00000494684.1:p.Pro566Ser
ENST00000645773.1:c.1570C>T	ENSP00000493698.1:p.Pro524Ser
ENST00000645787.1:n.1839C>T
ENST00000646619.1:c.1258C>T	ENSP00000493726.1:p.Pro420Ser
ENST00000651183.1:c.1258C>T	ENSP00000498723.1:p.Pro420Ser
ENST00000297784.9:c.1696C>T	ENSP00000297784.5:p.Pro566Ser
ENST00000340019.4:c.1696C>T	ENSP00000341433.3:p.Pro566Ser
ENST00000469455.1:n.177C>T
ENST00000486417.5:n.320C>T
NM_138691.2:c.1696C>T	NP_619636.2:p.Pro566Ser
XM_011518213.1:c.2284C>T	XP_011516515.1:p.Pro762Ser
XM_017014256.1:c.1699C>T	XP_016869745.1:p.Pro567Ser
NM_138691.3:c.1696C>T MANE Select	NP_619636.2:p.Pro566Ser