Canonical Allele Identifier: CA120135

Gene: TTPA

Linked Data

• ClinVar Variation Id: 9137
• ClinVar RCV Id: RCV000009708 ; RCV000055795
• dbSNP Id: rs121917849
• gnomAD v2: 8-63985549-A-C
• gnomAD v4: 8-63072990-A-C
• MyVariant Identifiers: chr8:g.63985549A>C (hg19) ; chr8:g.63072990A>C (hg38)
• PubMed: PMID:3477125 ; PMID:7566022 ; PMID:8965888 ; PMID:20301419

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63072990A>C , CM000670.2:g.63072990A>C	GRCh38
NC_000008.10:g.63985549A>C , CM000670.1:g.63985549A>C	GRCh37
NC_000008.9:g.64148103A>C	NCBI36
NG_016123.1:g.18064T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260116.5:c.303T>G MANE Select	ENSP00000260116.4:p.His101Gln
ENST00000260116.4:c.303T>G	ENSP00000260116.4:p.His101Gln
ENST00000521138.1:n.232+12828T>G
NM_000370.3:c.303T>G MANE Select	NP_000361.1:p.His101Gln
XM_006716468.2:c.205-8674T>G	XP_006716531.1:n.205-8674T>G
XM_006716468.4:c.205-8674T>G	XP_006716531.1:n.205-8674T>G