Canonical Allele Identifier: CA399305840

Gene: TCAP

Linked Data

• gnomAD v4: 17-39666030-C-T
• MyVariant Identifiers: chr17:g.37822283C>T (hg19) ; chr17:g.39666030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666030C>T , CM000679.2:g.39666030C>T	GRCh38
NC_000017.10:g.37822283C>T , CM000679.1:g.37822283C>T	GRCh37
NC_000017.9:g.35075809C>T	NCBI36
NG_008892.1:g.5685C>T , LRG_210:g.5685C>T
NG_042278.1:g.3050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.425C>T MANE Select	ENSP00000312624.2:p.Pro142Leu
ENST00000309889.2:c.425C>T	ENSP00000312624.2:p.Pro142Leu
ENST00000578283.1:c.353C>T	ENSP00000462787.1:p.Pro118Leu
NM_003673.3:c.425C>T , LRG_210t1:c.425C>T	NP_003664.1:p.Pro142Leu
NM_003673.4:c.425C>T MANE Select	NP_003664.1:p.Pro142Leu