Canonical Allele Identifier: CA134937

Gene: TCAP

Linked Data

• ClinVar Variation Id: 44714
• ClinVar RCV Id: RCV000037801 ; RCV000248291 ; RCV000275117 ; RCV000385933 ; RCV000723762 ; RCV001081526
• dbSNP Id: rs146502276
• ExAC: 17:37821672 C / G
• gnomAD v2: 17-37821672-C-G
• gnomAD v3: 17-39665419-C-G
• gnomAD v4: 17-39665419-C-G
• MyVariant Identifiers: chr17:g.37821672C>G (hg19) ; chr17:g.39665419C>G (hg38)
• PubMed: PMID:24503780

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665419C>G , CM000679.2:g.39665419C>G	GRCh38
NC_000017.10:g.37821672C>G , CM000679.1:g.37821672C>G	GRCh37
NC_000017.9:g.35075198C>G	NCBI36
NG_008892.1:g.5074C>G , LRG_210:g.5074C>G
NG_042278.1:g.2439C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.60C>G MANE Select	ENSP00000312624.2:p.Ala20=
ENST00000309889.2:c.60C>G	ENSP00000312624.2:p.Ala20=
ENST00000578283.1:c.60C>G	ENSP00000462787.1:p.Ala20=
NM_003673.3:c.60C>G , LRG_210t1:c.60C>G	NP_003664.1:p.Ala20=
NM_003673.4:c.60C>G MANE Select	NP_003664.1:p.Ala20=