Canonical Allele Identifier: CA373670339

Gene: TMC1

Linked Data

• dbSNP Id: rs121908074
• gnomAD v4: 9-72821038-A-C
• MyVariant Identifiers: chr9:g.75435954A>C (hg19) ; chr9:g.72821038A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821038A>C , CM000671.2:g.72821038A>C	GRCh38
NC_000009.11:g.75435954A>C , CM000671.1:g.75435954A>C	GRCh37
NC_000009.10:g.74625774A>C	NCBI36
NG_008213.1:g.304238A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1960A>C MANE Select	ENSP00000297784.6:p.Met654Leu
ENST00000644967.1:c.*400A>C	ENSP00000496159.1:n.*400A>C
ENST00000645053.1:c.1258-5831A>C	ENSP00000493838.1:n.1258-5831A>C
ENST00000645208.2:c.1960A>C	ENSP00000494684.1:p.Met654Leu
ENST00000645773.1:c.1834A>C	ENSP00000493698.1:p.Met612Leu
ENST00000645787.1:n.2103A>C
ENST00000646619.1:c.1522A>C	ENSP00000493726.1:p.Met508Leu
ENST00000651183.1:c.1522A>C	ENSP00000498723.1:p.Met508Leu
ENST00000297784.9:c.1960A>C	ENSP00000297784.5:p.Met654Leu
ENST00000340019.4:c.1960A>C	ENSP00000341433.3:p.Met654Leu
ENST00000469455.1:n.441A>C
ENST00000486417.5:n.858A>C
NM_138691.2:c.1960A>C	NP_619636.2:p.Met654Leu
XM_011518213.1:c.2548A>C	XP_011516515.1:p.Met850Leu
XM_017014256.1:c.1963A>C	XP_016869745.1:p.Met655Leu
NM_138691.3:c.1960A>C MANE Select	NP_619636.2:p.Met654Leu