Canonical Allele Identifier: CA499670503
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 464950
ClinVar RCV Id: RCV000544689 RCV001724046 RCV001701034
dbSNP Id: rs1360918794
gnomAD v2: 17-37822281-C-T
gnomAD v4: 17-39666028-C-T
MyVariant Identifiers: chr17:g.37822281C>T (hg19) chr17:g.39666028C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666028C>T , CM000679.2:g.39666028C>T GRCh38
NC_000017.10:g.37822281C>T , CM000679.1:g.37822281C>T GRCh37
NC_000017.9:g.35075807C>T NCBI36
NG_008892.1:g.5683C>T , LRG_210:g.5683C>T
NG_042278.1:g.3048C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.423C>T MANE Select ENSP00000312624.2:p.Pro141=
ENST00000309889.2:c.423C>T ENSP00000312624.2:p.Pro141=
ENST00000578283.1:c.351C>T ENSP00000462787.1:p.Pro117=
NM_003673.3:c.423C>T , LRG_210t1:c.423C>T NP_003664.1:p.Pro141=
NM_003673.4:c.423C>T MANE Select NP_003664.1:p.Pro141=
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