Canonical Allele Identifier: CA1221645

Gene: TMCO1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165743252A>G , CM000663.2:g.165743252A>G	GRCh38
NC_000001.10:g.165712489A>G , CM000663.1:g.165712489A>G	GRCh37
NC_000001.9:g.163979113A>G	NCBI36
NG_032004.1:g.30671T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367881.11:c.383T>C MANE Select	ENSP00000356856.6:p.Leu128Pro
ENST00000465705.4:c.*214T>C	ENSP00000463105.2:n.*214T>C
ENST00000476143.7:c.*173T>C	ENSP00000464127.2:n.*173T>C
ENST00000367881.9:c.536T>C	ENSP00000356856.5:p.Leu179Pro
ENST00000392129.10:c.383T>C	ENSP00000375975.5:p.Leu128Pro
ENST00000464650.5:c.131T>C	ENSP00000463951.1:p.Leu44Pro
ENST00000465705.3:c.*214T>C	ENSP00000463105.1:n.*214T>C
ENST00000476143.6:c.460T>C
ENST00000481278.5:c.347T>C	ENSP00000462300.1:p.Leu116Pro
ENST00000580248.5:c.131T>C	ENSP00000462588.1:p.Leu44Pro
ENST00000612311.4:c.536T>C	ENSP00000480514.1:p.Leu179Pro
NM_001256164.1:c.434T>C	NP_001243093.1:p.Leu145Pro
NM_001256165.1:c.347T>C	NP_001243094.1:p.Leu116Pro
NM_019026.4:c.536T>C	NP_061899.2:p.Leu179Pro
NR_045818.1:n.477T>C
NM_001366129.1:c.383T>C	NP_001353058.1:p.Leu128Pro
NM_019026.5:c.383T>C	NP_061899.3:p.Leu128Pro
NM_019026.6:c.383T>C MANE Select	NP_061899.3:p.Leu128Pro