Canonical Allele Identifier: CA373505974

Gene: TMC1

Linked Data

• dbSNP Id: rs2118192240
• gnomAD v4: 9-72791930-G-C
• MyVariant Identifiers: chr9:g.75406846G>C (hg19) ; chr9:g.72791930G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791930G>C , CM000671.2:g.72791930G>C	GRCh38
NC_000009.11:g.75406846G>C , CM000671.1:g.75406846G>C	GRCh37
NC_000009.10:g.74596666G>C	NCBI36
NG_008213.1:g.275130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1269G>C MANE Select	ENSP00000297784.6:p.Leu423Phe
ENST00000644967.1:c.831G>C	ENSP00000496159.1:p.Leu277Phe
ENST00000645053.1:c.831G>C	ENSP00000493838.1:p.Leu277Phe
ENST00000645208.2:c.1269G>C	ENSP00000494684.1:p.Leu423Phe
ENST00000645773.1:c.1143G>C	ENSP00000493698.1:p.Leu381Phe
ENST00000645787.1:n.1309G>C
ENST00000646619.1:c.831G>C	ENSP00000493726.1:p.Leu277Phe
ENST00000650689.1:n.1567G>C
ENST00000651183.1:c.831G>C	ENSP00000498723.1:p.Leu277Phe
ENST00000297784.9:c.1269G>C	ENSP00000297784.5:p.Leu423Phe
ENST00000340019.4:c.1269G>C	ENSP00000341433.3:p.Leu423Phe
NM_138691.2:c.1269G>C	NP_619636.2:p.Leu423Phe
XM_011518213.1:c.1857G>C	XP_011516515.1:p.Leu619Phe
XM_017014256.1:c.1272G>C	XP_016869745.1:p.Leu424Phe
NM_138691.3:c.1269G>C MANE Select	NP_619636.2:p.Leu423Phe