Canonical Allele Identifier: CA079150

Gene: MYBPC3

Linked Data

• dbSNP Id: rs762396429
• ExAC: 11:47355171 A / T
• gnomAD v2: 11-47355171-A-T
• MyVariant Identifiers: chr11:g.47355171A>T (hg19) ; chr11:g.47333620A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333620A>T , CM000673.2:g.47333620A>T	GRCh38
NC_000011.9:g.47355171A>T , CM000673.1:g.47355171A>T	GRCh37
NC_000011.8:g.47311747A>T	NCBI36
NG_007667.1:g.24083T>A , LRG_386:g.24083T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3127T>A MANE Select	ENSP00000442795.1:p.Tyr1043Asn
ENST00000256993.8:c.3127T>A	ENSP00000256993.5:p.Tyr1043Asn
ENST00000399249.6:c.3127T>A	ENSP00000382193.2:p.Tyr1043Asn
ENST00000545968.5:c.3127T>A	ENSP00000442795.1:p.Tyr1043Asn
NM_000256.3:c.3127T>A , LRG_386t1:c.3127T>A MANE Select	NP_000247.2:p.Tyr1043Asn
XM_011520117.1:c.3109T>A	XP_011518419.1:p.Tyr1037Asn
XM_011520118.1:c.3046T>A	XP_011518420.1:p.Tyr1016Asn