Canonical Allele Identifier: CA355462471

Gene: THPO EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184090904T>G (hg19) ; chr3:g.184373116T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184373116T>G , CM000665.2:g.184373116T>G	GRCh38
NC_000003.11:g.184090904T>G , CM000665.1:g.184090904T>G	GRCh37
NC_000003.10:g.185573598T>G	NCBI36
NG_012136.1:g.10029A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.879A>C (THPO)	ENSP00000494281.2:p.Gln293His
ENST00000647395.1:c.459A>C (THPO) MANE Select	ENSP00000494504.1:p.Gln153His
ENST00000649095.1:c.879A>C (THPO)	ENSP00000497904.1:p.Gln293His
ENST00000650229.1:c.442A>C (THPO)	ENSP00000497233.1:p.Thr148Pro
ENST00000204615.11:c.459A>C (THPO)	ENSP00000204615.7:p.Gln153His
ENST00000421442.2:c.459A>C (THPO)	ENSP00000411704.2:p.Gln153His
ENST00000444495.1:c.2106+228409T>G (EIF2B5)	ENSP00000409142.1:n.2106+228409T>G
ENST00000445696.6:c.447A>C (THPO)	ENSP00000410763.2:p.Gln149His
ENST00000477594.1:n.146A>C (THPO)
NM_000460.3:c.459A>C (THPO)	NP_000451.1:p.Gln153His
NM_001177597.2:c.447A>C (THPO)	NP_001171068.1:p.Gln149His
NM_001177598.2:c.442A>C (THPO)	NP_001171069.1:p.Thr148Pro
NM_001289997.1:c.459A>C (THPO)	NP_001276926.1:p.Gln153His
NM_001289998.1:c.459A>C (THPO)	NP_001276927.1:p.Gln153His
NM_001290003.1:c.879A>C (THPO)	NP_001276932.1:p.Gln293His
NM_001290022.1:c.447A>C (THPO)	NP_001276951.1:p.Gln149His
NM_001290026.1:c.442A>C (THPO)	NP_001276955.1:p.Thr148Pro
NM_001290027.1:c.459A>C (THPO)	NP_001276956.1:p.Gln153His
NM_001290028.1:c.459A>C (THPO)	NP_001276957.1:p.Gln153His
XM_011513113.1:c.867A>C (THPO)	XP_011511415.1:p.Gln289His
NM_000460.4:c.459A>C (THPO) MANE Select	NP_000451.1:p.Gln153His
XM_017007107.1:c.867A>C (THPO)	XP_016862596.1:p.Gln289His