Canonical Allele Identifier: CA355461852

Gene: THPO EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184090644A>G (hg19) ; chr3:g.184372856A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372856A>G , CM000665.2:g.184372856A>G	GRCh38
NC_000003.11:g.184090644A>G , CM000665.1:g.184090644A>G	GRCh37
NC_000003.10:g.185573338A>G	NCBI36
NG_012136.1:g.10289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1139T>C (THPO)	ENSP00000494281.2:p.Leu380Pro
ENST00000647395.1:c.719T>C (THPO) MANE Select	ENSP00000494504.1:p.Leu240Pro
ENST00000649095.1:c.1139T>C (THPO)	ENSP00000497904.1:p.Leu380Pro
ENST00000650229.1:c.702T>C (THPO)	ENSP00000497233.1:p.Pro234=
ENST00000204615.11:c.719T>C (THPO)	ENSP00000204615.7:p.Leu240Pro
ENST00000421442.2:c.603T>C (THPO)	ENSP00000411704.2:p.Pro201=
ENST00000444495.1:c.2106+228149A>G (EIF2B5)	ENSP00000409142.1:n.2106+228149A>G
ENST00000445696.6:c.707T>C (THPO)	ENSP00000410763.2:p.Leu236Pro
NM_000460.3:c.719T>C (THPO)	NP_000451.1:p.Leu240Pro
NM_001177597.2:c.707T>C (THPO)	NP_001171068.1:p.Leu236Pro
NM_001177598.2:c.702T>C (THPO)	NP_001171069.1:p.Pro234=
NM_001289997.1:c.603T>C (THPO)	NP_001276926.1:p.Pro201=
NM_001289998.1:c.719T>C (THPO)	NP_001276927.1:p.Leu240Pro
NM_001290003.1:c.1139T>C (THPO)	NP_001276932.1:p.Leu380Pro
NM_001290022.1:c.707T>C (THPO)	NP_001276951.1:p.Leu236Pro
NM_001290026.1:c.702T>C (THPO)	NP_001276955.1:p.Pro234=
NM_001290027.1:c.603T>C (THPO)	NP_001276956.1:p.Pro201=
NM_001290028.1:c.719T>C (THPO)	NP_001276957.1:p.Leu240Pro
XM_011513113.1:c.1011T>C (THPO)	XP_011511415.1:p.Pro337=
NM_000460.4:c.719T>C (THPO) MANE Select	NP_000451.1:p.Leu240Pro
XM_017007107.1:c.1011T>C (THPO)	XP_016862596.1:p.Pro337=