Canonical Allele Identifier: CA16608409

Gene: TCAP

Linked Data

• ClinVar Variation Id: 387609
• ClinVar RCV Id: RCV000429018 ; RCV002059787 ; RCV003168676
• dbSNP Id: rs370118201
• gnomAD v2: 17-37822053-C-G
• gnomAD v3: 17-39665800-C-G
• gnomAD v4: 17-39665800-C-G
• MyVariant Identifiers: chr17:g.37822053C>G (hg19) ; chr17:g.39665800C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665800C>G , CM000679.2:g.39665800C>G	GRCh38
NC_000017.10:g.37822053C>G , CM000679.1:g.37822053C>G	GRCh37
NC_000017.9:g.35075579C>G	NCBI36
NG_008892.1:g.5455C>G , LRG_210:g.5455C>G
NG_042278.1:g.2820C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.195C>G MANE Select	ENSP00000312624.2:p.Pro65=
ENST00000309889.2:c.195C>G	ENSP00000312624.2:p.Pro65=
ENST00000578283.1:c.174+21C>G	ENSP00000462787.1:n.174+21C>G
NM_003673.3:c.195C>G , LRG_210t1:c.195C>G	NP_003664.1:p.Pro65=
NM_003673.4:c.195C>G MANE Select	NP_003664.1:p.Pro65=