Canonical Allele Identifier: CA308849
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 180535
ClinVar RCV Id: RCV000157513 RCV000532216 RCV000620741 RCV000725845 RCV000845017
dbSNP Id: rs45509691
ExAC: 17:37822279 C / G
gnomAD v2: 17-37822279-C-G
gnomAD v3: 17-39666026-C-G
gnomAD v4: 17-39666026-C-G
MyVariant Identifiers: chr17:g.37822279C>G (hg19) chr17:g.39666026C>G (hg38)
PubMed: PMID:16911908 PMID:18585512 PMID:19412328 PMID:20215591 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666026C>G , CM000679.2:g.39666026C>G GRCh38
NC_000017.10:g.37822279C>G , CM000679.1:g.37822279C>G GRCh37
NC_000017.9:g.35075805C>G NCBI36
NG_008892.1:g.5681C>G , LRG_210:g.5681C>G
NG_042278.1:g.3046C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000309889.3:c.421C>G MANE Select ENSP00000312624.2:p.Pro141Ala
ENST00000309889.2:c.421C>G ENSP00000312624.2:p.Pro141Ala
ENST00000578283.1:c.349C>G ENSP00000462787.1:p.Pro117Ala
NM_003673.3:c.421C>G , LRG_210t1:c.421C>G NP_003664.1:p.Pro141Ala
NM_003673.4:c.421C>G MANE Select NP_003664.1:p.Pro141Ala
Search 100 bp 5'
Search 100 bp 3'