Canonical Allele Identifier: CA069190

Gene: TCAP

Linked Data

• ClinVar Variation Id: 222831
• ClinVar RCV Id: RCV000208185 ; RCV000248437 ; RCV000487596 ; RCV000687192 ; RCV000852467 ; RCV002494545
• dbSNP Id: rs762850913
• ExAC: 17:37822306 G / A
• gnomAD v2: 17-37822306-G-A
• gnomAD v3: 17-39666053-G-A
• gnomAD v4: 17-39666053-G-A
• MyVariant Identifiers: chr17:g.37822306G>A (hg19) ; chr17:g.39666053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666053G>A , CM000679.2:g.39666053G>A	GRCh38
NC_000017.10:g.37822306G>A , CM000679.1:g.37822306G>A	GRCh37
NC_000017.9:g.35075832G>A	NCBI36
NG_008892.1:g.5708G>A , LRG_210:g.5708G>A
NG_042278.1:g.3073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.448G>A MANE Select	ENSP00000312624.2:p.Gly150Ser
ENST00000309889.2:c.448G>A	ENSP00000312624.2:p.Gly150Ser
ENST00000578283.1:c.376G>A	ENSP00000462787.1:p.Gly126Ser
NM_003673.3:c.448G>A , LRG_210t1:c.448G>A	NP_003664.1:p.Gly150Ser
NM_003673.4:c.448G>A MANE Select	NP_003664.1:p.Gly150Ser