Canonical Allele Identifier: CA221681882

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 3072336
• ClinVar RCV Id: RCV004012366
• dbSNP Id: rs931472720
• MyVariant Identifiers: chr11:g.47353799G>A (hg19) ; chr11:g.47332248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332248G>A , CM000673.2:g.47332248G>A	GRCh38
NC_000011.9:g.47353799G>A , CM000673.1:g.47353799G>A	GRCh37
NC_000011.8:g.47310375G>A	NCBI36
NG_007667.1:g.25455C>T , LRG_386:g.25455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3638C>T MANE Select	ENSP00000442795.1:p.Ser1213Phe
ENST00000256993.8:c.3638C>T	ENSP00000256993.5:p.Ser1213Phe
ENST00000399249.6:c.3638C>T	ENSP00000382193.2:p.Ser1213Phe
ENST00000545968.5:c.3638C>T	ENSP00000442795.1:p.Ser1213Phe
NM_000256.3:c.3638C>T , LRG_386t1:c.3638C>T MANE Select	NP_000247.2:p.Ser1213Phe
XM_011520117.1:c.3620C>T	XP_011518419.1:p.Ser1207Phe
XM_011520118.1:c.3557C>T	XP_011518420.1:p.Ser1186Phe