Canonical Allele Identifier: CA88912548

Linked Data

ClinVar Variation Id: 3177121
ClinVar RCV Id: RCV004466963
dbSNP Id: rs528630227

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184373056G>C , CM000665.2:g.184373056G>C GRCh38
NC_000003.11:g.184090844G>C , CM000665.1:g.184090844G>C GRCh37
NC_000003.10:g.185573538G>C NCBI36
NG_012136.1:g.10089C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645603.2:c.939C>G (THPO) ENSP00000494281.2:p.Val313=
ENST00000647395.1:c.519C>G (THPO) MANE Select ENSP00000494504.1:p.Val173=
ENST00000649095.1:c.939C>G (THPO) ENSP00000497904.1:p.Val313=
ENST00000650229.1:c.502C>G (THPO) ENSP00000497233.1:p.Gln168Glu
ENST00000204615.11:c.519C>G (THPO) ENSP00000204615.7:p.Val173=
ENST00000421442.2:c.477+42C>G (THPO) ENSP00000411704.2:n.477+42C>G
ENST00000444495.1:c.2106+228349G>C (EIF2B5) ENSP00000409142.1:n.2106+228349G>C
ENST00000445696.6:c.507C>G (THPO) ENSP00000410763.2:p.Val169=
ENST00000477594.1:n.164+42C>G (THPO)
NM_000460.3:c.519C>G (THPO) NP_000451.1:p.Val173=
NM_001177597.2:c.507C>G (THPO) NP_001171068.1:p.Val169=
NM_001177598.2:c.502C>G (THPO) NP_001171069.1:p.Gln168Glu
NM_001289997.1:c.477+42C>G (THPO) NP_001276926.1:n.477+42C>G
NM_001289998.1:c.519C>G (THPO) NP_001276927.1:p.Val173=
NM_001290003.1:c.939C>G (THPO) NP_001276932.1:p.Val313=
NM_001290022.1:c.507C>G (THPO) NP_001276951.1:p.Val169=
NM_001290026.1:c.502C>G (THPO) NP_001276955.1:p.Gln168Glu
NM_001290027.1:c.477+42C>G (THPO) NP_001276956.1:n.477+42C>G
NM_001290028.1:c.519C>G (THPO) NP_001276957.1:p.Val173=
XM_011513113.1:c.885+42C>G (THPO) XP_011511415.1:n.885+42C>G
NM_000460.4:c.519C>G (THPO) MANE Select NP_000451.1:p.Val173=
XM_017007107.1:c.885+42C>G (THPO) XP_016862596.1:n.885+42C>G