Canonical Allele Identifier: CA355462021

Gene: THPO EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184090705T>C (hg19) ; chr3:g.184372917T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372917T>C , CM000665.2:g.184372917T>C	GRCh38
NC_000003.11:g.184090705T>C , CM000665.1:g.184090705T>C	GRCh37
NC_000003.10:g.185573399T>C	NCBI36
NG_012136.1:g.10228A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1078A>G (THPO)	ENSP00000494281.2:p.Lys360Glu
ENST00000647395.1:c.658A>G (THPO) MANE Select	ENSP00000494504.1:p.Lys220Glu
ENST00000649095.1:c.1078A>G (THPO)	ENSP00000497904.1:p.Lys360Glu
ENST00000650229.1:c.641A>G (THPO)	ENSP00000497233.1:p.Glu214Gly
ENST00000204615.11:c.658A>G (THPO)	ENSP00000204615.7:p.Lys220Glu
ENST00000421442.2:c.542A>G (THPO)	ENSP00000411704.2:p.Glu181Gly
ENST00000444495.1:c.2106+228210T>C (EIF2B5)	ENSP00000409142.1:n.2106+228210T>C
ENST00000445696.6:c.646A>G (THPO)	ENSP00000410763.2:p.Lys216Glu
ENST00000477594.1:n.229A>G (THPO)
NM_000460.3:c.658A>G (THPO)	NP_000451.1:p.Lys220Glu
NM_001177597.2:c.646A>G (THPO)	NP_001171068.1:p.Lys216Glu
NM_001177598.2:c.641A>G (THPO)	NP_001171069.1:p.Glu214Gly
NM_001289997.1:c.542A>G (THPO)	NP_001276926.1:p.Glu181Gly
NM_001289998.1:c.658A>G (THPO)	NP_001276927.1:p.Lys220Glu
NM_001290003.1:c.1078A>G (THPO)	NP_001276932.1:p.Lys360Glu
NM_001290022.1:c.646A>G (THPO)	NP_001276951.1:p.Lys216Glu
NM_001290026.1:c.641A>G (THPO)	NP_001276955.1:p.Glu214Gly
NM_001290027.1:c.542A>G (THPO)	NP_001276956.1:p.Glu181Gly
NM_001290028.1:c.658A>G (THPO)	NP_001276957.1:p.Lys220Glu
XM_011513113.1:c.950A>G (THPO)	XP_011511415.1:p.Glu317Gly
NM_000460.4:c.658A>G (THPO) MANE Select	NP_000451.1:p.Lys220Glu
XM_017007107.1:c.950A>G (THPO)	XP_016862596.1:p.Glu317Gly