Canonical Allele Identifier: CA355462151

Gene: THPO EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184090751C>A (hg19) ; chr3:g.184372963C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372963C>A , CM000665.2:g.184372963C>A	GRCh38
NC_000003.11:g.184090751C>A , CM000665.1:g.184090751C>A	GRCh37
NC_000003.10:g.185573445C>A	NCBI36
NG_012136.1:g.10182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1032G>T (THPO)	ENSP00000494281.2:p.Glu344Asp
ENST00000647395.1:c.612G>T (THPO) MANE Select	ENSP00000494504.1:p.Glu204Asp
ENST00000649095.1:c.1032G>T (THPO)	ENSP00000497904.1:p.Glu344Asp
ENST00000650229.1:c.595G>T (THPO)	ENSP00000497233.1:p.Asp199Tyr
ENST00000204615.11:c.612G>T (THPO)	ENSP00000204615.7:p.Glu204Asp
ENST00000421442.2:c.496G>T (THPO)	ENSP00000411704.2:p.Asp166Tyr
ENST00000444495.1:c.2106+228256C>A (EIF2B5)	ENSP00000409142.1:n.2106+228256C>A
ENST00000445696.6:c.600G>T (THPO)	ENSP00000410763.2:p.Glu200Asp
ENST00000477594.1:n.183G>T (THPO)
NM_000460.3:c.612G>T (THPO)	NP_000451.1:p.Glu204Asp
NM_001177597.2:c.600G>T (THPO)	NP_001171068.1:p.Glu200Asp
NM_001177598.2:c.595G>T (THPO)	NP_001171069.1:p.Asp199Tyr
NM_001289997.1:c.496G>T (THPO)	NP_001276926.1:p.Asp166Tyr
NM_001289998.1:c.612G>T (THPO)	NP_001276927.1:p.Glu204Asp
NM_001290003.1:c.1032G>T (THPO)	NP_001276932.1:p.Glu344Asp
NM_001290022.1:c.600G>T (THPO)	NP_001276951.1:p.Glu200Asp
NM_001290026.1:c.595G>T (THPO)	NP_001276955.1:p.Asp199Tyr
NM_001290027.1:c.496G>T (THPO)	NP_001276956.1:p.Asp166Tyr
NM_001290028.1:c.612G>T (THPO)	NP_001276957.1:p.Glu204Asp
XM_011513113.1:c.904G>T (THPO)	XP_011511415.1:p.Asp302Tyr
NM_000460.4:c.612G>T (THPO) MANE Select	NP_000451.1:p.Glu204Asp
XM_017007107.1:c.904G>T (THPO)	XP_016862596.1:p.Asp302Tyr