Canonical Allele Identifier: CA274475
Gene: TTPA HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.63086020A>G
GRCh37 chr8:g.63998579A>G
Revel Score:
ENST00000260116 (MANE Select) 0.408
gnomAD v3:
8:63086020 A / G
gnomAD v4:
chr8-63086020-A-G
Joint Max Group AF 0.00002072 (AMR)
Exomes Max Group AF 0.00001531 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63086020A>G , CM000670.2:g.63086020A>G GRCh38
NC_000008.10:g.63998579A>G , CM000670.1:g.63998579A>G GRCh37
NC_000008.9:g.64161133A>G NCBI36
NG_016123.1:g.5034T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.2T>C MANE Select ENSP00000260116.4:p.Met1Thr
ENST00000260116.4:c.2T>C ENSP00000260116.4:p.Met1Thr
ENST00000521138.1:n.30T>C
NM_000370.3:c.2T>C MANE Select NP_000361.1:p.Met1Thr
XM_006716468.2:c.2T>C XP_006716531.1:p.Met1Thr
XM_006716468.4:c.2T>C XP_006716531.1:p.Met1Thr
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