Canonical Allele Identifier: CA499889218
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs2145074010
MyVariant Identifiers: chr17:g.37822206G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665953G>C , CM000679.2:g.39665953G>C GRCh38
NC_000017.10:g.37822206G>C , CM000679.1:g.37822206G>C GRCh37
NC_000017.9:g.35075732G>C NCBI36
NG_008892.1:g.5608G>C , LRG_210:g.5608G>C
NG_042278.1:g.2973G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.348G>C MANE Select ENSP00000312624.2:p.Leu116=
ENST00000309889.2:c.348G>C ENSP00000312624.2:p.Leu116=
ENST00000578283.1:c.276G>C ENSP00000462787.1:p.Leu92=
NM_003673.3:c.348G>C , LRG_210t1:c.348G>C NP_003664.1:p.Leu116=
NM_003673.4:c.348G>C MANE Select NP_003664.1:p.Leu116=
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