Canonical Allele Identifier: CA308820

Gene: TCAP

Linked Data

• ClinVar Variation Id: 202103
• ClinVar RCV Id: RCV000183920 ; RCV002516937
• dbSNP Id: rs774516749
• ExAC: 17:37822148 C / T
• gnomAD v2: 17-37822148-C-T
• gnomAD v4: 17-39665895-C-T
• MyVariant Identifiers: chr17:g.37822148C>T (hg19) ; chr17:g.39665895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665895C>T , CM000679.2:g.39665895C>T	GRCh38
NC_000017.10:g.37822148C>T , CM000679.1:g.37822148C>T	GRCh37
NC_000017.9:g.35075674C>T	NCBI36
NG_008892.1:g.5550C>T , LRG_210:g.5550C>T
NG_042278.1:g.2915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.290C>T MANE Select	ENSP00000312624.2:p.Ala97Val
ENST00000309889.2:c.290C>T	ENSP00000312624.2:p.Ala97Val
ENST00000578283.1:c.218C>T	ENSP00000462787.1:p.Ala73Val
NM_003673.3:c.290C>T , LRG_210t1:c.290C>T	NP_003664.1:p.Ala97Val
NM_003673.4:c.290C>T MANE Select	NP_003664.1:p.Ala97Val