Canonical Allele Identifier: CA380321537
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1360648
ClinVar RCV Id: RCV001872548 RCV003299057
dbSNP Id: rs2142857647
COSMIC: COSM3447801 COSM3447802
MyVariant Identifiers: chr11:g.47361245C>T (hg19) chr11:g.47339694C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339694C>T , CM000673.2:g.47339694C>T GRCh38
NC_000011.9:g.47361245C>T , CM000673.1:g.47361245C>T GRCh37
NC_000011.8:g.47317821C>T NCBI36
NG_007667.1:g.18009G>A , LRG_386:g.18009G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2024G>A MANE Select ENSP00000442795.1:p.Gly675Glu
ENST00000256993.8:c.2024G>A ENSP00000256993.5:p.Gly675Glu
ENST00000399249.6:c.2024G>A ENSP00000382193.2:p.Gly675Glu
ENST00000544791.1:c.2024G>A ENSP00000444259.1:p.Gly675Glu
ENST00000545968.5:c.2024G>A ENSP00000442795.1:p.Gly675Glu
NM_000256.3:c.2024G>A , LRG_386t1:c.2024G>A MANE Select NP_000247.2:p.Gly675Glu
XM_011520117.1:c.2006G>A XP_011518419.1:p.Gly669Glu
XM_011520118.1:c.2024G>A XP_011518420.1:p.Gly675Glu
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