Canonical Allele Identifier: CA221682063
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs546744563
MyVariant Identifiers: chr11:g.47354166A>G (hg19) chr11:g.47332615A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332615A>G , CM000673.2:g.47332615A>G GRCh38
NC_000011.9:g.47354166A>G , CM000673.1:g.47354166A>G GRCh37
NC_000011.8:g.47310742A>G NCBI36
NG_007667.1:g.25088T>C , LRG_386:g.25088T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3578T>C MANE Select ENSP00000442795.1:p.Ile1193Thr
ENST00000256993.8:c.3578T>C ENSP00000256993.5:p.Ile1193Thr
ENST00000399249.6:c.3578T>C ENSP00000382193.2:p.Ile1193Thr
ENST00000545968.5:c.3578T>C ENSP00000442795.1:p.Ile1193Thr
NM_000256.3:c.3578T>C , LRG_386t1:c.3578T>C MANE Select NP_000247.2:p.Ile1193Thr
XM_011520117.1:c.3560T>C XP_011518419.1:p.Ile1187Thr
XM_011520118.1:c.3497T>C XP_011518420.1:p.Ile1166Thr
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