Canonical Allele Identifier: CA282451

Gene: TCAP

Linked Data

• ClinVar Variation Id: 44709
• ClinVar RCV Id: RCV000037796 ; RCV000395204 ; RCV000860325 ; RCV000251363 ; RCV000337974
• dbSNP Id: rs1053651
• ExAC: 17:37822311 A / C
• gnomAD v2: 17-37822311-A-C
• gnomAD v3: 17-39666058-A-C
• gnomAD v4: 17-39666058-A-C
• MyVariant Identifiers: chr17:g.37822311A>C (hg19) ; chr17:g.39666058A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666058A>C , CM000679.2:g.39666058A>C	GRCh38
NC_000017.10:g.37822311A>C , CM000679.1:g.37822311A>C	GRCh37
NC_000017.9:g.35075837A>C	NCBI36
NG_008892.1:g.5713A>C , LRG_210:g.5713A>C
NG_042278.1:g.3078A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.453A>C MANE Select	ENSP00000312624.2:p.Ala151=
ENST00000309889.2:c.453A>C	ENSP00000312624.2:p.Ala151=
ENST00000578283.1:c.381A>C	ENSP00000462787.1:p.Ala127=
NM_003673.3:c.453A>C , LRG_210t1:c.453A>C	NP_003664.1:p.Ala151=
NM_003673.4:c.453A>C MANE Select	NP_003664.1:p.Ala151=