Canonical Allele Identifier: CA399304673
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 2952074
ClinVar RCV Id: RCV003815225
MyVariant Identifiers: chr17:g.37822123C>A (hg19) chr17:g.39665870C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665870C>A , CM000679.2:g.39665870C>A GRCh38
NC_000017.10:g.37822123C>A , CM000679.1:g.37822123C>A GRCh37
NC_000017.9:g.35075649C>A NCBI36
NG_008892.1:g.5525C>A , LRG_210:g.5525C>A
NG_042278.1:g.2890C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309889.3:c.265C>A MANE Select ENSP00000312624.2:p.Leu89Met
ENST00000309889.2:c.265C>A ENSP00000312624.2:p.Leu89Met
ENST00000578283.1:c.193C>A ENSP00000462787.1:p.Leu65Met
NM_003673.3:c.265C>A , LRG_210t1:c.265C>A NP_003664.1:p.Leu89Met
NM_003673.4:c.265C>A MANE Select NP_003664.1:p.Leu89Met
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