Canonical Allele Identifier: CA10605419
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 286261
ClinVar RCV Id: RCV000289944 RCV001387607
dbSNP Id: rs779699520
gnomAD v4: 17-39665462-G-T
MyVariant Identifiers: chr17:g.37821715G>T (hg19) chr17:g.39665462G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665462G>T , CM000679.2:g.39665462G>T GRCh38
NC_000017.10:g.37821715G>T , CM000679.1:g.37821715G>T GRCh37
NC_000017.9:g.35075241G>T NCBI36
NG_008892.1:g.5117G>T , LRG_210:g.5117G>T
NG_042278.1:g.2482G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.103G>T MANE Select ENSP00000312624.2:p.Glu35Ter
ENST00000309889.2:c.103G>T ENSP00000312624.2:p.Glu35Ter
ENST00000578283.1:c.103G>T ENSP00000462787.1:p.Glu35Ter
NM_003673.3:c.103G>T , LRG_210t1:c.103G>T NP_003664.1:p.Glu35Ter
NM_003673.4:c.103G>T MANE Select NP_003664.1:p.Glu35Ter
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