Canonical Allele Identifier: CA373505991

Gene: TMC1

Linked Data

• dbSNP Id: rs1211061169
• gnomAD v2: 9-75406849-T-G
• MyVariant Identifiers: chr9:g.75406849T>G (hg19) ; chr9:g.72791933T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791933T>G , CM000671.2:g.72791933T>G	GRCh38
NC_000009.11:g.75406849T>G , CM000671.1:g.75406849T>G	GRCh37
NC_000009.10:g.74596669T>G	NCBI36
NG_008213.1:g.275133T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1272T>G MANE Select	ENSP00000297784.6:p.Phe424Leu
ENST00000644967.1:c.834T>G	ENSP00000496159.1:p.Phe278Leu
ENST00000645053.1:c.834T>G	ENSP00000493838.1:p.Phe278Leu
ENST00000645208.2:c.1272T>G	ENSP00000494684.1:p.Phe424Leu
ENST00000645773.1:c.1146T>G	ENSP00000493698.1:p.Phe382Leu
ENST00000645787.1:n.1312T>G
ENST00000646619.1:c.834T>G	ENSP00000493726.1:p.Phe278Leu
ENST00000650689.1:n.1570T>G
ENST00000651183.1:c.834T>G	ENSP00000498723.1:p.Phe278Leu
ENST00000297784.9:c.1272T>G	ENSP00000297784.5:p.Phe424Leu
ENST00000340019.4:c.1272T>G	ENSP00000341433.3:p.Phe424Leu
NM_138691.2:c.1272T>G	NP_619636.2:p.Phe424Leu
XM_011518213.1:c.1860T>G	XP_011516515.1:p.Phe620Leu
XM_017014256.1:c.1275T>G	XP_016869745.1:p.Phe425Leu
NM_138691.3:c.1272T>G MANE Select	NP_619636.2:p.Phe424Leu