Canonical Allele Identifier: CA1425997798

Gene: THPO EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372737C= , CM000665.2:g.184372737C=	GRCh38
NC_000003.11:g.184090525C= , CM000665.1:g.184090525C=	GRCh37
NC_000003.10:g.185573219C=	NCBI36
NG_012136.1:g.10408G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1258G= (THPO)	ENSP00000494281.2:p.Asp420=
ENST00000647395.1:c.838G= (THPO) MANE Select	ENSP00000494504.1:p.Asp280=
ENST00000649095.1:c.1258G= (THPO)	ENSP00000497904.1:p.Asp420=
ENST00000650229.1:c.821G= (THPO)	ENSP00000497233.1:p.Arg274=
ENST00000204615.11:c.838G= (THPO)	ENSP00000204615.7:p.Asp280=
ENST00000421442.2:c.722G= (THPO)	ENSP00000411704.2:p.Arg241=
ENST00000444495.1:c.2106+228030C= (EIF2B5)	ENSP00000409142.1:n.2106+228030C=
ENST00000445696.6:c.826G= (THPO)	ENSP00000410763.2:p.Asp276=
NM_000460.3:c.838G= (THPO)	NP_000451.1:p.Asp280=
NM_001177597.2:c.826G= (THPO)	NP_001171068.1:p.Asp276=
NM_001177598.2:c.821G= (THPO)	NP_001171069.1:p.Arg274=
NM_001289997.1:c.722G= (THPO)	NP_001276926.1:p.Arg241=
NM_001289998.1:c.838G= (THPO)	NP_001276927.1:p.Asp280=
NM_001290003.1:c.1258G= (THPO)	NP_001276932.1:p.Asp420=
NM_001290022.1:c.826G= (THPO)	NP_001276951.1:p.Asp276=
NM_001290026.1:c.821G= (THPO)	NP_001276955.1:p.Arg274=
NM_001290027.1:c.722G= (THPO)	NP_001276956.1:p.Arg241=
NM_001290028.1:c.838G= (THPO)	NP_001276957.1:p.Asp280=
XM_011513113.1:c.1130G= (THPO)	XP_011511415.1:p.Arg377=
NM_000460.4:c.838G= (THPO) MANE Select	NP_000451.1:p.Asp280=
XM_017007107.1:c.1130G= (THPO)	XP_016862596.1:p.Arg377=