Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA012059

Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 180989

ClinVar RCV Id: RCV000158199

dbSNP Id: rs730880580

MyVariant Identifiers: chr11:g.47372852C>T (hg19) chr11:g.47351301C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351301C>T , CM000673.2:g.47351301C>T	GRCh38
NC_000011.9:g.47372852C>T , CM000673.1:g.47372852C>T	GRCh37
NC_000011.8:g.47329428C>T	NCBI36
NG_007667.1:g.6402G>A , LRG_386:g.6402G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.230G>A MANE Select	ENSP00000442795.1:p.Gly77Glu
ENST00000256993.8:c.230G>A	ENSP00000256993.5:p.Gly77Glu
ENST00000399249.6:c.230G>A	ENSP00000382193.2:p.Gly77Glu
ENST00000544791.1:c.230G>A	ENSP00000444259.1:p.Gly77Glu
ENST00000545968.5:c.230G>A	ENSP00000442795.1:p.Gly77Glu
NM_000256.3:c.230G>A , LRG_386t1:c.230G>A MANE Select	NP_000247.2:p.Gly77Glu
XM_011520117.1:c.230G>A	XP_011518419.1:p.Gly77Glu
XM_011520118.1:c.230G>A	XP_011518420.1:p.Gly77Glu