Canonical Allele Identifier: CA380312386

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2144052
• ClinVar RCV Id: RCV003068198 ; RCV003533341
• MyVariant Identifiers: chr11:g.47354148A>G (hg19) ; chr11:g.47332597A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332597A>G , CM000673.2:g.47332597A>G	GRCh38
NC_000011.9:g.47354148A>G , CM000673.1:g.47354148A>G	GRCh37
NC_000011.8:g.47310724A>G	NCBI36
NG_007667.1:g.25106T>C , LRG_386:g.25106T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3596T>C MANE Select	ENSP00000442795.1:p.Met1199Thr
ENST00000256993.8:c.3596T>C	ENSP00000256993.5:p.Met1199Thr
ENST00000399249.6:c.3596T>C	ENSP00000382193.2:p.Met1199Thr
ENST00000545968.5:c.3596T>C	ENSP00000442795.1:p.Met1199Thr
NM_000256.3:c.3596T>C , LRG_386t1:c.3596T>C MANE Select	NP_000247.2:p.Met1199Thr
XM_011520117.1:c.3578T>C	XP_011518419.1:p.Met1193Thr
XM_011520118.1:c.3515T>C	XP_011518420.1:p.Met1172Thr