Canonical Allele Identifier: CA373667755

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75420413T>C (hg19) ; chr9:g.72805497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805497T>C , CM000671.2:g.72805497T>C	GRCh38
NC_000009.11:g.75420413T>C , CM000671.1:g.75420413T>C	GRCh37
NC_000009.10:g.74610233T>C	NCBI36
NG_008213.1:g.288697T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1682T>C MANE Select	ENSP00000297784.6:p.Leu561Ser
ENST00000644967.1:c.1244T>C	ENSP00000496159.1:p.Leu415Ser
ENST00000645053.1:c.1244T>C	ENSP00000493838.1:p.Leu415Ser
ENST00000645208.2:c.1682T>C	ENSP00000494684.1:p.Leu561Ser
ENST00000645773.1:c.1556T>C	ENSP00000493698.1:p.Leu519Ser
ENST00000645787.1:n.1825T>C
ENST00000646619.1:c.1244T>C	ENSP00000493726.1:p.Leu415Ser
ENST00000651183.1:c.1244T>C	ENSP00000498723.1:p.Leu415Ser
ENST00000297784.9:c.1682T>C	ENSP00000297784.5:p.Leu561Ser
ENST00000340019.4:c.1682T>C	ENSP00000341433.3:p.Leu561Ser
ENST00000486417.5:n.306T>C
NM_138691.2:c.1682T>C	NP_619636.2:p.Leu561Ser
XM_011518213.1:c.2270T>C	XP_011516515.1:p.Leu757Ser
XM_017014256.1:c.1685T>C	XP_016869745.1:p.Leu562Ser
NM_138691.3:c.1682T>C MANE Select	NP_619636.2:p.Leu561Ser