Canonical Allele Identifier: CA399305492
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 464949
ClinVar RCV Id: RCV000555585
dbSNP Id: rs147503632
gnomAD v4: 17-39665994-G-C
MyVariant Identifiers: chr17:g.37822247G>C (hg19) chr17:g.39665994G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665994G>C , CM000679.2:g.39665994G>C GRCh38
NC_000017.10:g.37822247G>C , CM000679.1:g.37822247G>C GRCh37
NC_000017.9:g.35075773G>C NCBI36
NG_008892.1:g.5649G>C , LRG_210:g.5649G>C
NG_042278.1:g.3014G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.389G>C MANE Select ENSP00000312624.2:p.Arg130Pro
ENST00000309889.2:c.389G>C ENSP00000312624.2:p.Arg130Pro
ENST00000578283.1:c.317G>C ENSP00000462787.1:p.Arg106Pro
NM_003673.3:c.389G>C , LRG_210t1:c.389G>C NP_003664.1:p.Arg130Pro
NM_003673.4:c.389G>C MANE Select NP_003664.1:p.Arg130Pro
Search 100 bp 5'
Search 100 bp 3'