Canonical Allele Identifier: CA499670500
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1616012
ClinVar RCV Id: RCV002083994
dbSNP Id: rs2145074488
gnomAD v4: 17-39666025-G-T
MyVariant Identifiers: chr17:g.37822278G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666025G>T , CM000679.2:g.39666025G>T GRCh38
NC_000017.10:g.37822278G>T , CM000679.1:g.37822278G>T GRCh37
NC_000017.9:g.35075804G>T NCBI36
NG_008892.1:g.5680G>T , LRG_210:g.5680G>T
NG_042278.1:g.3045G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.420G>T MANE Select ENSP00000312624.2:p.Leu140=
ENST00000309889.2:c.420G>T ENSP00000312624.2:p.Leu140=
ENST00000578283.1:c.348G>T ENSP00000462787.1:p.Leu116=
NM_003673.3:c.420G>T , LRG_210t1:c.420G>T NP_003664.1:p.Leu140=
NM_003673.4:c.420G>T MANE Select NP_003664.1:p.Leu140=
Search 100 bp 5'
Search 100 bp 3'