Canonical Allele Identifier: CA380315516
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47333709-G-A
MyVariant Identifiers: chr11:g.47355260G>A (hg19) chr11:g.47333709G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3038C>T MANE Select ENSP00000442795.1:p.Pro1013Leu
ENST00000256993.8:c.3038C>T ENSP00000256993.5:p.Pro1013Leu
ENST00000399249.6:c.3038C>T ENSP00000382193.2:p.Pro1013Leu
ENST00000545968.5:c.3038C>T ENSP00000442795.1:p.Pro1013Leu
NM_000256.3:c.3038C>T , LRG_386t1:c.3038C>T MANE Select NP_000247.2:p.Pro1013Leu
XM_011520117.1:c.3020C>T XP_011518419.1:p.Pro1007Leu
XM_011520118.1:c.2957C>T XP_011518420.1:p.Pro986Leu
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