Canonical Allele Identifier: CA8532845

Gene: TCAP

Linked Data

• ClinVar Variation Id: 259120
• ClinVar RCV Id: RCV000253225 ; RCV000830697
• dbSNP Id: rs2941510
• ExAC: 17:37821770 C / T
• gnomAD v2: 17-37821770-C-T
• gnomAD v3: 17-39665517-C-T
• gnomAD v4: 17-39665517-C-T
• MyVariant Identifiers: chr17:g.37821770C>T (hg19) ; chr17:g.39665517C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665517C>T , CM000679.2:g.39665517C>T	GRCh38
NC_000017.10:g.37821770C>T , CM000679.1:g.37821770C>T	GRCh37
NC_000017.9:g.35075296C>T	NCBI36
NG_008892.1:g.5172C>T , LRG_210:g.5172C>T
NG_042278.1:g.2537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.110+48C>T MANE Select	ENSP00000312624.2:n.110+48C>T
ENST00000309889.2:c.110+48C>T	ENSP00000312624.2:n.110+48C>T
ENST00000578283.1:c.110+48C>T	ENSP00000462787.1:n.110+48C>T
NM_003673.3:c.110+48C>T , LRG_210t1:c.110+48C>T	NP_003664.1:n.110+48C>T
NM_003673.4:c.110+48C>T MANE Select	NP_003664.1:n.110+48C>T