Canonical Allele Identifier: CA10210399

Gene: MYH9

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36319627G>A , CM000684.2:g.36319627G>A	GRCh38
NC_000022.10:g.36715672G>A , CM000684.1:g.36715672G>A	GRCh37
NC_000022.9:g.35045618G>A	NCBI36
NG_011884.2:g.73392C>T , LRG_567:g.73392C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002473.6:c.1021C>T MANE Select	NP_002464.1:p.Arg341Trp
ENST00000216181.11:c.1021C>T MANE Select	ENSP00000216181.6:p.Arg341Trp
NM_002473.5:c.1021C>T , LRG_567t1:c.1021C>T	NP_002464.1:p.Arg341Trp
ENST00000216181.9:c.1021C>T	ENSP00000216181.5:p.Arg341Trp
ENST00000477189.1:n.209C>T
ENST00000685187.1:n.1235C>T
ENST00000685801.1:c.1021C>T	ENSP00000510688.1:p.Arg341Trp
ENST00000691109.1:n.1316C>T
ENST00000691687.1:n.1819C>T
ENST00000692930.1:n.1235C>T
XM_011530197.1:c.1021C>T	XP_011528499.1:p.Arg341Trp
XM_011530197.2:c.1021C>T	XP_011528499.1:p.Arg341Trp
XM_017028803.1:c.1021C>T	XP_016884292.1:p.Arg341Trp
XM_017028804.1:c.1021C>T	XP_016884293.1:p.Arg341Trp
XM_017028805.1:c.1021C>T	XP_016884294.1:p.Arg341Trp
XM_017028806.1:c.1021C>T	XP_016884295.1:p.Arg341Trp