Canonical Allele Identifier: CA355461996

Gene: THPO EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184090697C>A (hg19) ; chr3:g.184372909C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184372909C>A , CM000665.2:g.184372909C>A	GRCh38
NC_000003.11:g.184090697C>A , CM000665.1:g.184090697C>A	GRCh37
NC_000003.10:g.185573391C>A	NCBI36
NG_012136.1:g.10236G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.1086G>T (THPO)	ENSP00000494281.2:p.Gln362His
ENST00000647395.1:c.666G>T (THPO) MANE Select	ENSP00000494504.1:p.Gln222His
ENST00000649095.1:c.1086G>T (THPO)	ENSP00000497904.1:p.Gln362His
ENST00000650229.1:c.649G>T (THPO)	ENSP00000497233.1:p.Ala217Ser
ENST00000204615.11:c.666G>T (THPO)	ENSP00000204615.7:p.Gln222His
ENST00000421442.2:c.550G>T (THPO)	ENSP00000411704.2:p.Ala184Ser
ENST00000444495.1:c.2106+228202C>A (EIF2B5)	ENSP00000409142.1:n.2106+228202C>A
ENST00000445696.6:c.654G>T (THPO)	ENSP00000410763.2:p.Gln218His
ENST00000477594.1:n.237G>T (THPO)
NM_000460.3:c.666G>T (THPO)	NP_000451.1:p.Gln222His
NM_001177597.2:c.654G>T (THPO)	NP_001171068.1:p.Gln218His
NM_001177598.2:c.649G>T (THPO)	NP_001171069.1:p.Ala217Ser
NM_001289997.1:c.550G>T (THPO)	NP_001276926.1:p.Ala184Ser
NM_001289998.1:c.666G>T (THPO)	NP_001276927.1:p.Gln222His
NM_001290003.1:c.1086G>T (THPO)	NP_001276932.1:p.Gln362His
NM_001290022.1:c.654G>T (THPO)	NP_001276951.1:p.Gln218His
NM_001290026.1:c.649G>T (THPO)	NP_001276955.1:p.Ala217Ser
NM_001290027.1:c.550G>T (THPO)	NP_001276956.1:p.Ala184Ser
NM_001290028.1:c.666G>T (THPO)	NP_001276957.1:p.Gln222His
XM_011513113.1:c.958G>T (THPO)	XP_011511415.1:p.Ala320Ser
NM_000460.4:c.666G>T (THPO) MANE Select	NP_000451.1:p.Gln222His
XM_017007107.1:c.958G>T (THPO)	XP_016862596.1:p.Ala320Ser