Canonical Allele Identifier: CA8532892

Gene: TCAP

Linked Data

• ClinVar Variation Id: 3175035
• ClinVar RCV Id: RCV004474383
• dbSNP Id: rs767577344
• ExAC: 17:37822153 A / G
• gnomAD v2: 17-37822153-A-G
• gnomAD v3: 17-39665900-A-G
• gnomAD v4: 17-39665900-A-G
• COSMIC: COSM3958309
• MyVariant Identifiers: chr17:g.37822153A>G (hg19) ; chr17:g.39665900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665900A>G , CM000679.2:g.39665900A>G	GRCh38
NC_000017.10:g.37822153A>G , CM000679.1:g.37822153A>G	GRCh37
NC_000017.9:g.35075679A>G	NCBI36
NG_008892.1:g.5555A>G , LRG_210:g.5555A>G
NG_042278.1:g.2920A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.295A>G MANE Select	ENSP00000312624.2:p.Met99Val
ENST00000309889.2:c.295A>G	ENSP00000312624.2:p.Met99Val
ENST00000578283.1:c.223A>G	ENSP00000462787.1:p.Met75Val
NM_003673.3:c.295A>G , LRG_210t1:c.295A>G	NP_003664.1:p.Met99Val
NM_003673.4:c.295A>G MANE Select	NP_003664.1:p.Met99Val