Canonical Allele Identifier: CA8532907
Gene: TCAP HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.39666015C>A
GRCh37 chr17:g.37822268C>A
Revel Score:
ENST00000309889 (MANE Select) 0.417
gnomAD v2:
17:37822268 C / A
gnomAD v4:
chr17-39666015-C-A
Joint Max Group AF 0.00004368 (SAS)
Exomes Max Group AF 0.00004579 (SAS)
ClinVar RCV:
RCV003428253
ClinVar Variation:
2647721
dbSNP:
773317399
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666015C>A , CM000679.2:g.39666015C>A GRCh38
NC_000017.10:g.37822268C>A , CM000679.1:g.37822268C>A GRCh37
NC_000017.9:g.35075794C>A NCBI36
NG_008892.1:g.5670C>A , LRG_210:g.5670C>A
NG_042278.1:g.3035C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.410C>A MANE Select ENSP00000312624.2:p.Thr137Lys
ENST00000309889.2:c.410C>A ENSP00000312624.2:p.Thr137Lys
ENST00000578283.1:c.338C>A ENSP00000462787.1:p.Thr113Lys
NM_003673.3:c.410C>A , LRG_210t1:c.410C>A NP_003664.1:p.Thr137Lys
NM_003673.4:c.410C>A MANE Select NP_003664.1:p.Thr137Lys
Search 100 bp 5'
Search 100 bp 3'