Canonical Allele Identifier: CA499889135
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 761191
ClinVar RCV Id: RCV001505032
dbSNP Id: rs1597805549
gnomAD v4: 17-39665852-C-T
MyVariant Identifiers: chr17:g.37822105C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665852C>T , CM000679.2:g.39665852C>T GRCh38
NC_000017.10:g.37822105C>T , CM000679.1:g.37822105C>T GRCh37
NC_000017.9:g.35075631C>T NCBI36
NG_008892.1:g.5507C>T , LRG_210:g.5507C>T
NG_042278.1:g.2872C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.247C>T MANE Select ENSP00000312624.2:p.Leu83=
ENST00000309889.2:c.247C>T ENSP00000312624.2:p.Leu83=
ENST00000578283.1:c.175C>T ENSP00000462787.1:p.Leu59=
NM_003673.3:c.247C>T , LRG_210t1:c.247C>T NP_003664.1:p.Leu83=
NM_003673.4:c.247C>T MANE Select NP_003664.1:p.Leu83=
Search 100 bp 5'
Search 100 bp 3'