Canonical Allele Identifier: CA373723791

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75309536G>C (hg19) ; chr9:g.72694620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694620G>C , CM000671.2:g.72694620G>C	GRCh38
NC_000009.11:g.75309536G>C , CM000671.1:g.75309536G>C	GRCh37
NC_000009.10:g.74499356G>C	NCBI36
NG_008213.1:g.177820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.142G>C MANE Select	ENSP00000297784.6:p.Val48Leu
ENST00000644967.1:c.-171G>C	ENSP00000496159.1:n.-171G>C
ENST00000645053.1:c.-171G>C	ENSP00000493838.1:n.-171G>C
ENST00000645208.2:c.142G>C	ENSP00000494684.1:p.Val48Leu
ENST00000645773.1:c.142G>C	ENSP00000493698.1:p.Val48Leu
ENST00000645787.1:n.182G>C
ENST00000646244.1:n.592G>C
ENST00000646619.1:c.-171G>C	ENSP00000493726.1:n.-171G>C
ENST00000650689.1:n.566G>C
ENST00000651183.1:c.-171G>C	ENSP00000498723.1:n.-171G>C
ENST00000297784.9:c.142G>C	ENSP00000297784.5:p.Val48Leu
ENST00000340019.4:c.142G>C	ENSP00000341433.3:p.Val48Leu
NM_138691.2:c.142G>C	NP_619636.2:p.Val48Leu
XM_011518213.1:c.730G>C	XP_011516515.1:p.Val244Leu
XM_017014256.1:c.145G>C	XP_016869745.1:p.Val49Leu
NM_138691.3:c.142G>C MANE Select	NP_619636.2:p.Val48Leu