Canonical Allele Identifier: CA282451
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 44709
ClinVar RCV Id: RCV000037796 RCV000395204 RCV000860325 RCV000251363 RCV000337974
dbSNP Id: rs1053651
ExAC: 17:37822311 A / C
gnomAD v2: 17-37822311-A-C
gnomAD v3: 17-39666058-A-C
gnomAD v4: 17-39666058-A-C
MyVariant Identifiers: chr17:g.37822311A>C (hg19) chr17:g.39666058A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666058A>C , CM000679.2:g.39666058A>C GRCh38
NC_000017.10:g.37822311A>C , CM000679.1:g.37822311A>C GRCh37
NC_000017.9:g.35075837A>C NCBI36
NG_008892.1:g.5713A>C , LRG_210:g.5713A>C
NG_042278.1:g.3078A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.453A>C MANE Select ENSP00000312624.2:p.Ala151=
ENST00000309889.2:c.453A>C ENSP00000312624.2:p.Ala151=
ENST00000578283.1:c.381A>C ENSP00000462787.1:p.Ala127=
NM_003673.3:c.453A>C , LRG_210t1:c.453A>C NP_003664.1:p.Ala151=
NM_003673.4:c.453A>C MANE Select NP_003664.1:p.Ala151=
Search 100 bp 5'
Search 100 bp 3'