Canonical Allele Identifier: CA499889226

Gene: TCAP

Linked Data

• ClinVar Variation Id: 1120294
• ClinVar RCV Id: RCV001450154 ; RCV003160814
• dbSNP Id: rs1453601187
• gnomAD v2: 17-37822212-G-A
• gnomAD v4: 17-39665959-G-A
• MyVariant Identifiers: chr17:g.37822212G>A (hg19) ; chr17:g.39665959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665959G>A , CM000679.2:g.39665959G>A	GRCh38
NC_000017.10:g.37822212G>A , CM000679.1:g.37822212G>A	GRCh37
NC_000017.9:g.35075738G>A	NCBI36
NG_008892.1:g.5614G>A , LRG_210:g.5614G>A
NG_042278.1:g.2979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.354G>A MANE Select	ENSP00000312624.2:p.Ala118=
ENST00000309889.2:c.354G>A	ENSP00000312624.2:p.Ala118=
ENST00000578283.1:c.282G>A	ENSP00000462787.1:p.Ala94=
NM_003673.3:c.354G>A , LRG_210t1:c.354G>A	NP_003664.1:p.Ala118=
NM_003673.4:c.354G>A MANE Select	NP_003664.1:p.Ala118=