Canonical Allele Identifier: CA399305966

Gene: TCAP

Linked Data

• gnomAD v4: 17-39666054-G-T
• MyVariant Identifiers: chr17:g.37822307G>T (hg19) ; chr17:g.39666054G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666054G>T , CM000679.2:g.39666054G>T	GRCh38
NC_000017.10:g.37822307G>T , CM000679.1:g.37822307G>T	GRCh37
NC_000017.9:g.35075833G>T	NCBI36
NG_008892.1:g.5709G>T , LRG_210:g.5709G>T
NG_042278.1:g.3074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.449G>T MANE Select	ENSP00000312624.2:p.Gly150Val
ENST00000309889.2:c.449G>T	ENSP00000312624.2:p.Gly150Val
ENST00000578283.1:c.377G>T	ENSP00000462787.1:p.Gly126Val
NM_003673.3:c.449G>T , LRG_210t1:c.449G>T	NP_003664.1:p.Gly150Val
NM_003673.4:c.449G>T MANE Select	NP_003664.1:p.Gly150Val