Canonical Allele Identifier: CA399304031

Gene: TCAP

Linked Data

• MyVariant Identifiers: chr17:g.37822051C>T (hg19) ; chr17:g.39665798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665798C>T , CM000679.2:g.39665798C>T	GRCh38
NC_000017.10:g.37822051C>T , CM000679.1:g.37822051C>T	GRCh37
NC_000017.9:g.35075577C>T	NCBI36
NG_008892.1:g.5453C>T , LRG_210:g.5453C>T
NG_042278.1:g.2818C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.193C>T MANE Select	ENSP00000312624.2:p.Pro65Ser
ENST00000309889.2:c.193C>T	ENSP00000312624.2:p.Pro65Ser
ENST00000578283.1:c.174+19C>T	ENSP00000462787.1:n.174+19C>T
NM_003673.3:c.193C>T , LRG_210t1:c.193C>T	NP_003664.1:p.Pro65Ser
NM_003673.4:c.193C>T MANE Select	NP_003664.1:p.Pro65Ser