Canonical Allele Identifier: CA5082092

Gene: TMC1

Linked Data

• ClinVar Variation Id: 2695071
• ClinVar RCV Id: RCV003541924
• dbSNP Id: rs767285617
• ExAC: 9:75435896 C / T
• gnomAD v2: 9-75435896-C-T
• gnomAD v4: 9-72820980-C-T
• MyVariant Identifiers: chr9:g.75435896C>T (hg19) ; chr9:g.72820980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820980C>T , CM000671.2:g.72820980C>T	GRCh38
NC_000009.11:g.75435896C>T , CM000671.1:g.75435896C>T	GRCh37
NC_000009.10:g.74625716C>T	NCBI36
NG_008213.1:g.304180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1902C>T MANE Select	ENSP00000297784.6:p.Asn634=
ENST00000644967.1:c.*342C>T	ENSP00000496159.1:n.*342C>T
ENST00000645053.1:c.1258-5889C>T	ENSP00000493838.1:n.1258-5889C>T
ENST00000645208.2:c.1902C>T	ENSP00000494684.1:p.Asn634=
ENST00000645773.1:c.1776C>T	ENSP00000493698.1:p.Asn592=
ENST00000645787.1:n.2045C>T
ENST00000646619.1:c.1464C>T	ENSP00000493726.1:p.Asn488=
ENST00000651183.1:c.1464C>T	ENSP00000498723.1:p.Asn488=
ENST00000297784.9:c.1902C>T	ENSP00000297784.5:p.Asn634=
ENST00000340019.4:c.1902C>T	ENSP00000341433.3:p.Asn634=
ENST00000469455.1:n.383C>T
ENST00000486417.5:n.800C>T
NM_138691.2:c.1902C>T	NP_619636.2:p.Asn634=
XM_011518213.1:c.2490C>T	XP_011516515.1:p.Asn830=
XM_017014256.1:c.1905C>T	XP_016869745.1:p.Asn635=
NM_138691.3:c.1902C>T MANE Select	NP_619636.2:p.Asn634=