Canonical Allele Identifier: CA355461897

Gene: THPO EIF2B5

Linked Data

• gnomAD v4: 3-184372872-G-C
• MyVariant Identifiers: chr3:g.184090660G>C (hg19) ; chr3:g.184372872G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372872G>C , CM000665.2:g.184372872G>C	GRCh38
NC_000003.11:g.184090660G>C , CM000665.1:g.184090660G>C	GRCh37
NC_000003.10:g.185573354G>C	NCBI36
NG_012136.1:g.10273C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1123C>G (THPO)	ENSP00000494281.2:p.Gln375Glu
ENST00000647395.1:c.703C>G (THPO) MANE Select	ENSP00000494504.1:p.Gln235Glu
ENST00000649095.1:c.1123C>G (THPO)	ENSP00000497904.1:p.Gln375Glu
ENST00000650229.1:c.686C>G (THPO)	ENSP00000497233.1:p.Pro229Arg
ENST00000204615.11:c.703C>G (THPO)	ENSP00000204615.7:p.Gln235Glu
ENST00000421442.2:c.587C>G (THPO)	ENSP00000411704.2:p.Pro196Arg
ENST00000444495.1:c.2106+228165G>C (EIF2B5)	ENSP00000409142.1:n.2106+228165G>C
ENST00000445696.6:c.691C>G (THPO)	ENSP00000410763.2:p.Gln231Glu
NM_000460.3:c.703C>G (THPO)	NP_000451.1:p.Gln235Glu
NM_001177597.2:c.691C>G (THPO)	NP_001171068.1:p.Gln231Glu
NM_001177598.2:c.686C>G (THPO)	NP_001171069.1:p.Pro229Arg
NM_001289997.1:c.587C>G (THPO)	NP_001276926.1:p.Pro196Arg
NM_001289998.1:c.703C>G (THPO)	NP_001276927.1:p.Gln235Glu
NM_001290003.1:c.1123C>G (THPO)	NP_001276932.1:p.Gln375Glu
NM_001290022.1:c.691C>G (THPO)	NP_001276951.1:p.Gln231Glu
NM_001290026.1:c.686C>G (THPO)	NP_001276955.1:p.Pro229Arg
NM_001290027.1:c.587C>G (THPO)	NP_001276956.1:p.Pro196Arg
NM_001290028.1:c.703C>G (THPO)	NP_001276957.1:p.Gln235Glu
XM_011513113.1:c.995C>G (THPO)	XP_011511415.1:p.Pro332Arg
NM_000460.4:c.703C>G (THPO) MANE Select	NP_000451.1:p.Gln235Glu
XM_017007107.1:c.995C>G (THPO)	XP_016862596.1:p.Pro332Arg