Canonical Allele Identifier: CA355462333

Gene: THPO EIF2B5

Linked Data

• gnomAD v4: 3-184373045-G-A
• MyVariant Identifiers: chr3:g.184090833G>A (hg19) ; chr3:g.184373045G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184373045G>A , CM000665.2:g.184373045G>A	GRCh38
NC_000003.11:g.184090833G>A , CM000665.1:g.184090833G>A	GRCh37
NC_000003.10:g.185573527G>A	NCBI36
NG_012136.1:g.10100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.950C>T (THPO)	ENSP00000494281.2:p.Pro317Leu
ENST00000647395.1:c.530C>T (THPO) MANE Select	ENSP00000494504.1:p.Pro177Leu
ENST00000649095.1:c.950C>T (THPO)	ENSP00000497904.1:p.Pro317Leu
ENST00000650229.1:c.513C>T (THPO)	ENSP00000497233.1:p.Pro171=
ENST00000204615.11:c.530C>T (THPO)	ENSP00000204615.7:p.Pro177Leu
ENST00000421442.2:c.477+53C>T (THPO)	ENSP00000411704.2:n.477+53C>T
ENST00000444495.1:c.2106+228338G>A (EIF2B5)	ENSP00000409142.1:n.2106+228338G>A
ENST00000445696.6:c.518C>T (THPO)	ENSP00000410763.2:p.Pro173Leu
ENST00000477594.1:n.164+53C>T (THPO)
NM_000460.3:c.530C>T (THPO)	NP_000451.1:p.Pro177Leu
NM_001177597.2:c.518C>T (THPO)	NP_001171068.1:p.Pro173Leu
NM_001177598.2:c.513C>T (THPO)	NP_001171069.1:p.Pro171=
NM_001289997.1:c.477+53C>T (THPO)	NP_001276926.1:n.477+53C>T
NM_001289998.1:c.530C>T (THPO)	NP_001276927.1:p.Pro177Leu
NM_001290003.1:c.950C>T (THPO)	NP_001276932.1:p.Pro317Leu
NM_001290022.1:c.518C>T (THPO)	NP_001276951.1:p.Pro173Leu
NM_001290026.1:c.513C>T (THPO)	NP_001276955.1:p.Pro171=
NM_001290027.1:c.477+53C>T (THPO)	NP_001276956.1:n.477+53C>T
NM_001290028.1:c.530C>T (THPO)	NP_001276957.1:p.Pro177Leu
XM_011513113.1:c.885+53C>T (THPO)	XP_011511415.1:n.885+53C>T
NM_000460.4:c.530C>T (THPO) MANE Select	NP_000451.1:p.Pro177Leu
XM_017007107.1:c.885+53C>T (THPO)	XP_016862596.1:n.885+53C>T