Canonical Allele Identifier: CA355462215

Gene: THPO EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184090774T>A (hg19) ; chr3:g.184372986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372986T>A , CM000665.2:g.184372986T>A	GRCh38
NC_000003.11:g.184090774T>A , CM000665.1:g.184090774T>A	GRCh37
NC_000003.10:g.185573468T>A	NCBI36
NG_012136.1:g.10159A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1009A>T (THPO)	ENSP00000494281.2:p.Asn337Tyr
ENST00000647395.1:c.589A>T (THPO) MANE Select	ENSP00000494504.1:p.Asn197Tyr
ENST00000649095.1:c.1009A>T (THPO)	ENSP00000497904.1:p.Asn337Tyr
ENST00000650229.1:c.572A>T (THPO)	ENSP00000497233.1:p.Lys191Ile
ENST00000204615.11:c.589A>T (THPO)	ENSP00000204615.7:p.Asn197Tyr
ENST00000421442.2:c.478-5A>T (THPO)	ENSP00000411704.2:n.478-5A>T
ENST00000444495.1:c.2106+228279T>A (EIF2B5)	ENSP00000409142.1:n.2106+228279T>A
ENST00000445696.6:c.577A>T (THPO)	ENSP00000410763.2:p.Asn193Tyr
ENST00000477594.1:n.165-5A>T (THPO)
NM_000460.3:c.589A>T (THPO)	NP_000451.1:p.Asn197Tyr
NM_001177597.2:c.577A>T (THPO)	NP_001171068.1:p.Asn193Tyr
NM_001177598.2:c.572A>T (THPO)	NP_001171069.1:p.Lys191Ile
NM_001289997.1:c.478-5A>T (THPO)	NP_001276926.1:n.478-5A>T
NM_001289998.1:c.589A>T (THPO)	NP_001276927.1:p.Asn197Tyr
NM_001290003.1:c.1009A>T (THPO)	NP_001276932.1:p.Asn337Tyr
NM_001290022.1:c.577A>T (THPO)	NP_001276951.1:p.Asn193Tyr
NM_001290026.1:c.572A>T (THPO)	NP_001276955.1:p.Lys191Ile
NM_001290027.1:c.478-5A>T (THPO)	NP_001276956.1:n.478-5A>T
NM_001290028.1:c.589A>T (THPO)	NP_001276957.1:p.Asn197Tyr
XM_011513113.1:c.886-5A>T (THPO)	XP_011511415.1:n.886-5A>T
NM_000460.4:c.589A>T (THPO) MANE Select	NP_000451.1:p.Asn197Tyr
XM_017007107.1:c.886-5A>T (THPO)	XP_016862596.1:n.886-5A>T