Canonical Allele Identifier: CA8532870
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1129516
ClinVar RCV Id: RCV001462709
dbSNP Id: rs549769566
ExAC: 17:37822036 C / T
gnomAD v2: 17-37822036-C-T
gnomAD v3: 17-39665783-C-T
gnomAD v4: 17-39665783-C-T
MyVariant Identifiers: chr17:g.37822036C>T (hg19) chr17:g.39665783C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665783C>T , CM000679.2:g.39665783C>T GRCh38
NC_000017.10:g.37822036C>T , CM000679.1:g.37822036C>T GRCh37
NC_000017.9:g.35075562C>T NCBI36
NG_008892.1:g.5438C>T , LRG_210:g.5438C>T
NG_042278.1:g.2803C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.178C>T MANE Select ENSP00000312624.2:p.Leu60=
ENST00000309889.2:c.178C>T ENSP00000312624.2:p.Leu60=
ENST00000578283.1:c.174+4C>T ENSP00000462787.1:n.174+4C>T
NM_003673.3:c.178C>T , LRG_210t1:c.178C>T NP_003664.1:p.Leu60=
NM_003673.4:c.178C>T MANE Select NP_003664.1:p.Leu60=
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Search 100 bp 3'