Canonical Allele Identifier: CA499889219

Gene: TCAP

Linked Data

• dbSNP Id: rs2145074010
• gnomAD v4: 17-39665953-G-T
• MyVariant Identifiers: chr17:g.37822206G>T (hg19)

Genomic Alleles

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

Transcript Alleles

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