Canonical Allele Identifier: CA355461727

Gene: THPO EIF2B5

Linked Data

• dbSNP Id: rs1355254817
• gnomAD v3: 3-184372810-A-C
• gnomAD v4: 3-184372810-A-C
• MyVariant Identifiers: chr3:g.184090598A>C (hg19) ; chr3:g.184372810A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372810A>C , CM000665.2:g.184372810A>C	GRCh38
NC_000003.11:g.184090598A>C , CM000665.1:g.184090598A>C	GRCh37
NC_000003.10:g.185573292A>C	NCBI36
NG_012136.1:g.10335T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1185T>G (THPO)	ENSP00000494281.2:p.Asn395Lys
ENST00000647395.1:c.765T>G (THPO) MANE Select	ENSP00000494504.1:p.Asn255Lys
ENST00000649095.1:c.1185T>G (THPO)	ENSP00000497904.1:p.Asn395Lys
ENST00000650229.1:c.748T>G (THPO)	ENSP00000497233.1:p.Trp250Gly
ENST00000204615.11:c.765T>G (THPO)	ENSP00000204615.7:p.Asn255Lys
ENST00000421442.2:c.649T>G (THPO)	ENSP00000411704.2:p.Trp217Gly
ENST00000444495.1:c.2106+228103A>C (EIF2B5)	ENSP00000409142.1:n.2106+228103A>C
ENST00000445696.6:c.753T>G (THPO)	ENSP00000410763.2:p.Asn251Lys
NM_000460.3:c.765T>G (THPO)	NP_000451.1:p.Asn255Lys
NM_001177597.2:c.753T>G (THPO)	NP_001171068.1:p.Asn251Lys
NM_001177598.2:c.748T>G (THPO)	NP_001171069.1:p.Trp250Gly
NM_001289997.1:c.649T>G (THPO)	NP_001276926.1:p.Trp217Gly
NM_001289998.1:c.765T>G (THPO)	NP_001276927.1:p.Asn255Lys
NM_001290003.1:c.1185T>G (THPO)	NP_001276932.1:p.Asn395Lys
NM_001290022.1:c.753T>G (THPO)	NP_001276951.1:p.Asn251Lys
NM_001290026.1:c.748T>G (THPO)	NP_001276955.1:p.Trp250Gly
NM_001290027.1:c.649T>G (THPO)	NP_001276956.1:p.Trp217Gly
NM_001290028.1:c.765T>G (THPO)	NP_001276957.1:p.Asn255Lys
XM_011513113.1:c.1057T>G (THPO)	XP_011511415.1:p.Trp353Gly
NM_000460.4:c.765T>G (THPO) MANE Select	NP_000451.1:p.Asn255Lys
XM_017007107.1:c.1057T>G (THPO)	XP_016862596.1:p.Trp353Gly