Canonical Allele Identifier: CA2096412

Gene: TMEM169

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216100302C>G , CM000664.2:g.216100302C>G	GRCh38
NC_000002.11:g.216965025C>G , CM000664.1:g.216965025C>G	GRCh37
NC_000002.10:g.216673270C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001142311.2:c.654C>G MANE Select	NP_001135783.1:p.Ile218Met
ENST00000437356.7:c.654C>G MANE Select	ENSP00000401305.2:p.Ile218Met
NM_001142310.1:c.654C>G	NP_001135782.1:p.Ile218Met
NM_001142310.2:c.654C>G	NP_001135782.1:p.Ile218Met
NM_001142311.1:c.654C>G	NP_001135783.1:p.Ile218Met
NM_001142312.1:c.654C>G	NP_001135784.1:p.Ile218Met
NM_001142312.2:c.654C>G	NP_001135784.1:p.Ile218Met
NM_138390.3:c.654C>G	NP_612399.1:p.Ile218Met
NM_138390.4:c.654C>G	NP_612399.1:p.Ile218Met
ENST00000295658.8:c.654C>G	ENSP00000295658.4:p.Ile218Met
ENST00000406027.2:c.654C>G	ENSP00000384100.2:p.Ile218Met
ENST00000437356.6:c.654C>G	ENSP00000401305.2:p.Ile218Met
ENST00000454545.5:c.654C>G	ENSP00000412524.1:p.Ile218Met
XM_006712851.1:c.654C>G	XP_006712914.1:p.Ile218Met
XM_011512173.1:c.654C>G	XP_011510475.1:p.Ile218Met
XM_011512173.2:c.654C>G	XP_011510475.1:p.Ile218Met
XM_011512174.1:c.654C>G	XP_011510476.1:p.Ile218Met