Canonical Allele Identifier: CA474217538

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1650379
• ClinVar RCV Id: RCV002148975
• dbSNP Id: rs2142857612
• MyVariant Identifiers: chr11:g.47361229A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339678A>G , CM000673.2:g.47339678A>G	GRCh38
NC_000011.9:g.47361229A>G , CM000673.1:g.47361229A>G	GRCh37
NC_000011.8:g.47317805A>G	NCBI36
NG_007667.1:g.18025T>C , LRG_386:g.18025T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2040T>C MANE Select	ENSP00000442795.1:p.Thr680=
ENST00000256993.8:c.2040T>C	ENSP00000256993.5:p.Thr680=
ENST00000399249.6:c.2040T>C	ENSP00000382193.2:p.Thr680=
ENST00000544791.1:c.2040T>C	ENSP00000444259.1:p.Thr680=
ENST00000545968.5:c.2040T>C	ENSP00000442795.1:p.Thr680=
NM_000256.3:c.2040T>C , LRG_386t1:c.2040T>C MANE Select	NP_000247.2:p.Thr680=
XM_011520117.1:c.2022T>C	XP_011518419.1:p.Thr674=
XM_011520118.1:c.2040T>C	XP_011518420.1:p.Thr680=