Canonical Allele Identifier: CA399305881

Gene: TCAP

Linked Data

• MyVariant Identifiers: chr17:g.37822292C>T (hg19) ; chr17:g.39666039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666039C>T , CM000679.2:g.39666039C>T	GRCh38
NC_000017.10:g.37822292C>T , CM000679.1:g.37822292C>T	GRCh37
NC_000017.9:g.35075818C>T	NCBI36
NG_008892.1:g.5694C>T , LRG_210:g.5694C>T
NG_042278.1:g.3059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.434C>T MANE Select	ENSP00000312624.2:p.Pro145Leu
ENST00000309889.2:c.434C>T	ENSP00000312624.2:p.Pro145Leu
ENST00000578283.1:c.362C>T	ENSP00000462787.1:p.Pro121Leu
NM_003673.3:c.434C>T , LRG_210t1:c.434C>T	NP_003664.1:p.Pro145Leu
NM_003673.4:c.434C>T MANE Select	NP_003664.1:p.Pro145Leu