Canonical Allele Identifier: CA257103
Gene: MYH9 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'