Canonical Allele Identifier: CA399305917

Gene: TCAP

Linked Data

• dbSNP Id: rs1380602024
• MyVariant Identifiers: chr17:g.37822299C>G (hg19) ; chr17:g.39666046C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666046C>G , CM000679.2:g.39666046C>G	GRCh38
NC_000017.10:g.37822299C>G , CM000679.1:g.37822299C>G	GRCh37
NC_000017.9:g.35075825C>G	NCBI36
NG_008892.1:g.5701C>G , LRG_210:g.5701C>G
NG_042278.1:g.3066C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.441C>G MANE Select	ENSP00000312624.2:p.Ser147Arg
ENST00000309889.2:c.441C>G	ENSP00000312624.2:p.Ser147Arg
ENST00000578283.1:c.369C>G	ENSP00000462787.1:p.Ser123Arg
NM_003673.3:c.441C>G , LRG_210t1:c.441C>G	NP_003664.1:p.Ser147Arg
NM_003673.4:c.441C>G MANE Select	NP_003664.1:p.Ser147Arg