Canonical Allele Identifier: CA1221610

Gene: TMCO1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165728104G>A , CM000663.2:g.165728104G>A	GRCh38
NC_000001.10:g.165697341G>A , CM000663.1:g.165697341G>A	GRCh37
NC_000001.9:g.163963965G>A	NCBI36
NG_032004.1:g.45819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367881.11:c.486C>T MANE Select	ENSP00000356856.6:p.Leu162=
ENST00000476143.7:c.*276C>T	ENSP00000464127.2:n.*276C>T
ENST00000367881.9:c.639C>T	ENSP00000356856.5:p.Leu213=
ENST00000392129.10:c.486C>T	ENSP00000375975.5:p.Leu162=
ENST00000464650.5:c.234C>T	ENSP00000463951.1:p.Leu78=
ENST00000476143.6:c.563C>T
ENST00000580248.5:c.234C>T	ENSP00000462588.1:p.Leu78=
ENST00000612311.4:c.639C>T	ENSP00000480514.1:p.Leu213=
NM_001256164.1:c.537C>T	NP_001243093.1:p.Leu179=
NM_001256165.1:c.450C>T	NP_001243094.1:p.Leu150=
NM_019026.4:c.639C>T	NP_061899.2:p.Leu213=
NR_045818.1:n.580C>T
NM_001366129.1:c.486C>T	NP_001353058.1:p.Leu162=
NM_019026.5:c.486C>T	NP_061899.3:p.Leu162=
NM_019026.6:c.486C>T MANE Select	NP_061899.3:p.Leu162=