Canonical Allele Identifier: CA373670196

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435937C>T (hg19) ; chr9:g.72821021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821021C>T , CM000671.2:g.72821021C>T	GRCh38
NC_000009.11:g.75435937C>T , CM000671.1:g.75435937C>T	GRCh37
NC_000009.10:g.74625757C>T	NCBI36
NG_008213.1:g.304221C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1943C>T MANE Select	ENSP00000297784.6:p.Thr648Ile
ENST00000644967.1:c.*383C>T	ENSP00000496159.1:n.*383C>T
ENST00000645053.1:c.1258-5848C>T	ENSP00000493838.1:n.1258-5848C>T
ENST00000645208.2:c.1943C>T	ENSP00000494684.1:p.Thr648Ile
ENST00000645773.1:c.1817C>T	ENSP00000493698.1:p.Thr606Ile
ENST00000645787.1:n.2086C>T
ENST00000646619.1:c.1505C>T	ENSP00000493726.1:p.Thr502Ile
ENST00000651183.1:c.1505C>T	ENSP00000498723.1:p.Thr502Ile
ENST00000297784.9:c.1943C>T	ENSP00000297784.5:p.Thr648Ile
ENST00000340019.4:c.1943C>T	ENSP00000341433.3:p.Thr648Ile
ENST00000469455.1:n.424C>T
ENST00000486417.5:n.841C>T
NM_138691.2:c.1943C>T	NP_619636.2:p.Thr648Ile
XM_011518213.1:c.2531C>T	XP_011516515.1:p.Thr844Ile
XM_017014256.1:c.1946C>T	XP_016869745.1:p.Thr649Ile
NM_138691.3:c.1943C>T MANE Select	NP_619636.2:p.Thr648Ile