Canonical Allele Identifier: CA257103

Gene: MYH9

Linked Data

• ClinVar Variation Id: 14083
• ClinVar RCV Id: RCV000015138 ; RCV000477821 ; RCV000790352 ; RCV001537286
• dbSNP Id: rs121913657
• MyVariant Identifiers: chr22:g.36744995G>A (hg19) ; chr22:g.36348950G>A (hg38)
• PubMed: PMID:11752022 ; PMID:12533692 ; PMID:16969870 ; PMID:20301740 ; PMID:24186861 ; PMID:26226608

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36348950G>A , CM000684.2:g.36348950G>A	GRCh38
NC_000022.10:g.36744995G>A , CM000684.1:g.36744995G>A	GRCh37
NC_000022.9:g.35074941G>A	NCBI36
NG_011884.2:g.44069C>T , LRG_567:g.44069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685187.1:n.501C>T
ENST00000685191.1:n.510C>T
ENST00000685801.1:c.287C>T	ENSP00000510688.1:p.Ser96Leu
ENST00000688137.1:c.287C>T	ENSP00000510189.1:p.Ser96Leu
ENST00000691296.1:c.287C>T	ENSP00000509816.1:p.Ser96Leu
ENST00000691687.1:n.501C>T
ENST00000692930.1:n.501C>T
ENST00000216181.11:c.287C>T MANE Select	ENSP00000216181.6:p.Ser96Leu
ENST00000216181.9:c.287C>T	ENSP00000216181.5:p.Ser96Leu
ENST00000401701.1:c.287C>T	ENSP00000384631.1:p.Ser96Leu
ENST00000456729.1:c.287C>T	ENSP00000414852.1:p.Ser96Leu
NM_002473.5:c.287C>T , LRG_567t1:c.287C>T	NP_002464.1:p.Ser96Leu
XM_011530197.1:c.287C>T	XP_011528499.1:p.Ser96Leu
XM_011530197.2:c.287C>T	XP_011528499.1:p.Ser96Leu
XM_017028803.1:c.287C>T	XP_016884292.1:p.Ser96Leu
XM_017028804.1:c.287C>T	XP_016884293.1:p.Ser96Leu
XM_017028805.1:c.287C>T	XP_016884294.1:p.Ser96Leu
XM_017028806.1:c.287C>T	XP_016884295.1:p.Ser96Leu
NM_002473.6:c.287C>T MANE Select	NP_002464.1:p.Ser96Leu