Canonical Allele Identifier: CA308820
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 202103
ClinVar RCV Id: RCV000183920 RCV002516937
dbSNP Id: rs774516749
ExAC: 17:37822148 C / T
gnomAD v2: 17-37822148-C-T
gnomAD v4: 17-39665895-C-T
MyVariant Identifiers: chr17:g.37822148C>T (hg19) chr17:g.39665895C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665895C>T , CM000679.2:g.39665895C>T GRCh38
NC_000017.10:g.37822148C>T , CM000679.1:g.37822148C>T GRCh37
NC_000017.9:g.35075674C>T NCBI36
NG_008892.1:g.5550C>T , LRG_210:g.5550C>T
NG_042278.1:g.2915C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.290C>T MANE Select ENSP00000312624.2:p.Ala97Val
ENST00000309889.2:c.290C>T ENSP00000312624.2:p.Ala97Val
ENST00000578283.1:c.218C>T ENSP00000462787.1:p.Ala73Val
NM_003673.3:c.290C>T , LRG_210t1:c.290C>T NP_003664.1:p.Ala97Val
NM_003673.4:c.290C>T MANE Select NP_003664.1:p.Ala97Val
Search 100 bp 5'
Search 100 bp 3'