Canonical Allele Identifier: CA373724505

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75315485A>T (hg19) ; chr9:g.72700569A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700569A>T , CM000671.2:g.72700569A>T	GRCh38
NC_000009.11:g.75315485A>T , CM000671.1:g.75315485A>T	GRCh37
NC_000009.10:g.74505305A>T	NCBI36
NG_008213.1:g.183769A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.288A>T MANE Select	ENSP00000297784.6:p.Leu96Phe
ENST00000644967.1:c.-77+5855A>T	ENSP00000496159.1:n.-77+5855A>T
ENST00000645053.1:c.-77+5855A>T	ENSP00000493838.1:n.-77+5855A>T
ENST00000645208.2:c.288A>T	ENSP00000494684.1:p.Leu96Phe
ENST00000645773.1:c.236+5855A>T	ENSP00000493698.1:n.236+5855A>T
ENST00000645787.1:n.328A>T
ENST00000646244.1:n.738A>T
ENST00000646619.1:c.-77+5855A>T	ENSP00000493726.1:n.-77+5855A>T
ENST00000650689.1:n.660+5855A>T
ENST00000651183.1:c.-77+5855A>T	ENSP00000498723.1:n.-77+5855A>T
ENST00000297784.9:c.288A>T	ENSP00000297784.5:p.Leu96Phe
ENST00000340019.4:c.288A>T	ENSP00000341433.3:p.Leu96Phe
NM_138691.2:c.288A>T	NP_619636.2:p.Leu96Phe
XM_011518213.1:c.876A>T	XP_011516515.1:p.Leu292Phe
XM_017014256.1:c.291A>T	XP_016869745.1:p.Leu97Phe
NM_138691.3:c.288A>T MANE Select	NP_619636.2:p.Leu96Phe