Canonical Allele Identifier: CA380315519
Gene: MYBPC3 HGNC NCBI

Linked Data

COSMIC: COSM6239301 COSM6239302
MyVariant Identifiers: chr11:g.47355260G>T (hg19) chr11:g.47333709G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333709G>T , CM000673.2:g.47333709G>T GRCh38
NC_000011.9:g.47355260G>T , CM000673.1:g.47355260G>T GRCh37
NC_000011.8:g.47311836G>T NCBI36
NG_007667.1:g.23994C>A , LRG_386:g.23994C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3038C>A MANE Select ENSP00000442795.1:p.Pro1013His
ENST00000256993.8:c.3038C>A ENSP00000256993.5:p.Pro1013His
ENST00000399249.6:c.3038C>A ENSP00000382193.2:p.Pro1013His
ENST00000545968.5:c.3038C>A ENSP00000442795.1:p.Pro1013His
NM_000256.3:c.3038C>A , LRG_386t1:c.3038C>A MANE Select NP_000247.2:p.Pro1013His
XM_011520117.1:c.3020C>A XP_011518419.1:p.Pro1007His
XM_011520118.1:c.2957C>A XP_011518420.1:p.Pro986His
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