Canonical Allele Identifier: CA355461747

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184372816G>T , CM000665.2:g.184372816G>T GRCh38
NC_000003.11:g.184090604G>T , CM000665.1:g.184090604G>T GRCh37
NC_000003.10:g.185573298G>T NCBI36
NG_012136.1:g.10329C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645603.2:c.1179C>A (THPO) ENSP00000494281.2:p.Leu393=
ENST00000647395.1:c.759C>A (THPO) MANE Select ENSP00000494504.1:p.Leu253=
ENST00000649095.1:c.1179C>A (THPO) ENSP00000497904.1:p.Leu393=
ENST00000650229.1:c.742C>A (THPO) ENSP00000497233.1:p.Leu248Ile
ENST00000204615.11:c.759C>A (THPO) ENSP00000204615.7:p.Leu253=
ENST00000421442.2:c.643C>A (THPO) ENSP00000411704.2:p.Leu215Ile
ENST00000444495.1:c.2106+228109G>T (EIF2B5) ENSP00000409142.1:n.2106+228109G>T
ENST00000445696.6:c.747C>A (THPO) ENSP00000410763.2:p.Leu249=
NM_000460.3:c.759C>A (THPO) NP_000451.1:p.Leu253=
NM_001177597.2:c.747C>A (THPO) NP_001171068.1:p.Leu249=
NM_001177598.2:c.742C>A (THPO) NP_001171069.1:p.Leu248Ile
NM_001289997.1:c.643C>A (THPO) NP_001276926.1:p.Leu215Ile
NM_001289998.1:c.759C>A (THPO) NP_001276927.1:p.Leu253=
NM_001290003.1:c.1179C>A (THPO) NP_001276932.1:p.Leu393=
NM_001290022.1:c.747C>A (THPO) NP_001276951.1:p.Leu249=
NM_001290026.1:c.742C>A (THPO) NP_001276955.1:p.Leu248Ile
NM_001290027.1:c.643C>A (THPO) NP_001276956.1:p.Leu215Ile
NM_001290028.1:c.759C>A (THPO) NP_001276957.1:p.Leu253=
XM_011513113.1:c.1051C>A (THPO) XP_011511415.1:p.Leu351Ile
NM_000460.4:c.759C>A (THPO) MANE Select NP_000451.1:p.Leu253=
XM_017007107.1:c.1051C>A (THPO) XP_016862596.1:p.Leu351Ile