Canonical Allele Identifier: CA373505024

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75404187T>C (hg19) ; chr9:g.72789271T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789271T>C , CM000671.2:g.72789271T>C	GRCh38
NC_000009.11:g.75404187T>C , CM000671.1:g.75404187T>C	GRCh37
NC_000009.10:g.74594007T>C	NCBI36
NG_008213.1:g.272471T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1178T>C MANE Select	ENSP00000297784.6:p.Phe393Ser
ENST00000644967.1:c.740T>C	ENSP00000496159.1:p.Phe247Ser
ENST00000645053.1:c.740T>C	ENSP00000493838.1:p.Phe247Ser
ENST00000645208.2:c.1178T>C	ENSP00000494684.1:p.Phe393Ser
ENST00000645773.1:c.1052T>C	ENSP00000493698.1:p.Phe351Ser
ENST00000645787.1:n.1218T>C
ENST00000646619.1:c.740T>C	ENSP00000493726.1:p.Phe247Ser
ENST00000650689.1:n.1476T>C
ENST00000651183.1:c.740T>C	ENSP00000498723.1:p.Phe247Ser
ENST00000297784.9:c.1178T>C	ENSP00000297784.5:p.Phe393Ser
ENST00000340019.4:c.1178T>C	ENSP00000341433.3:p.Phe393Ser
NM_138691.2:c.1178T>C	NP_619636.2:p.Phe393Ser
XM_011518213.1:c.1766T>C	XP_011516515.1:p.Phe589Ser
XM_017014256.1:c.1181T>C	XP_016869745.1:p.Phe394Ser
NM_138691.3:c.1178T>C MANE Select	NP_619636.2:p.Phe393Ser