Canonical Allele Identifier: CA8532871

Gene: TCAP

Linked Data

• ClinVar Variation Id: 464945
• ClinVar RCV Id: RCV000525449 ; RCV002413526 ; RCV003139770
• dbSNP Id: rs758048577
• ExAC: 17:37822045 C / T
• gnomAD v2: 17-37822045-C-T
• gnomAD v3: 17-39665792-C-T
• gnomAD v4: 17-39665792-C-T
• MyVariant Identifiers: chr17:g.37822045C>T (hg19) ; chr17:g.39665792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665792C>T , CM000679.2:g.39665792C>T	GRCh38
NC_000017.10:g.37822045C>T , CM000679.1:g.37822045C>T	GRCh37
NC_000017.9:g.35075571C>T	NCBI36
NG_008892.1:g.5447C>T , LRG_210:g.5447C>T
NG_042278.1:g.2812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.187C>T MANE Select	ENSP00000312624.2:p.Arg63Cys
ENST00000309889.2:c.187C>T	ENSP00000312624.2:p.Arg63Cys
ENST00000578283.1:c.174+13C>T	ENSP00000462787.1:n.174+13C>T
NM_003673.3:c.187C>T , LRG_210t1:c.187C>T	NP_003664.1:p.Arg63Cys
NM_003673.4:c.187C>T MANE Select	NP_003664.1:p.Arg63Cys