Canonical Allele Identifier: CA078758

Gene: TRIM63

Linked Data

• ClinVar Variation Id: 222849
• ClinVar RCV Id: RCV000208240 ; RCV000623023 ; RCV000850351 ; RCV000873634
• dbSNP Id: rs148395034
• ExAC: 1:26384973 G / A
• gnomAD v2: 1-26384973-G-A
• gnomAD v3: 1-26058482-G-A
• gnomAD v4: 1-26058482-G-A
• MyVariant Identifiers: chr1:g.26384973G>A (hg19) ; chr1:g.26058482G>A (hg38)
• PubMed: PMID:10953002 ; PMID:11243782 ; PMID:11679633 ; PMID:11927605 ; PMID:15596539 ; PMID:15601779 ; PMID:16477476 ; PMID:17272810 ; PMID:17786241 ; PMID:18157088 ; PMID:19498199 ; PMID:22821932 ; PMID:24436435 ; PMID:24865491 ; PMID:25801283

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26058482G>A , CM000663.2:g.26058482G>A	GRCh38
NC_000001.10:g.26384973G>A , CM000663.1:g.26384973G>A	GRCh37
NC_000001.9:g.26257560G>A	NCBI36
NG_033268.1:g.14153C>T , LRG_757:g.14153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374272.4:c.739C>T MANE Select	ENSP00000363390.3:p.Gln247Ter
ENST00000374272.3:c.739C>T	ENSP00000363390.3:p.Gln247Ter
NM_032588.3:c.739C>T , LRG_757t1:c.739C>T	NP_115977.2:p.Gln247Ter
XM_017002559.2:c.739C>T	XP_016858048.1:p.Gln247Ter
NM_032588.4:c.739C>T MANE Select	NP_115977.2:p.Gln247Ter