Canonical Allele Identifier: CA399305542
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs2145074338
MyVariant Identifiers: chr17:g.37822255G>C (hg19) chr17:g.39666002G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666002G>C , CM000679.2:g.39666002G>C GRCh38
NC_000017.10:g.37822255G>C , CM000679.1:g.37822255G>C GRCh37
NC_000017.9:g.35075781G>C NCBI36
NG_008892.1:g.5657G>C , LRG_210:g.5657G>C
NG_042278.1:g.3022G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.397G>C MANE Select ENSP00000312624.2:p.Val133Leu
ENST00000309889.2:c.397G>C ENSP00000312624.2:p.Val133Leu
ENST00000578283.1:c.325G>C ENSP00000462787.1:p.Val109Leu
NM_003673.3:c.397G>C , LRG_210t1:c.397G>C NP_003664.1:p.Val133Leu
NM_003673.4:c.397G>C MANE Select NP_003664.1:p.Val133Leu
Search 100 bp 5'
Search 100 bp 3'