Canonical Allele Identifier: CA10210592
Community Standard Title: NM_002473.6(MYH9):c.552C>T (p.Thr184=)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36326628G>A , CM000684.2:g.36326628G>A GRCh38
NC_000022.10:g.36722673G>A , CM000684.1:g.36722673G>A GRCh37
NC_000022.9:g.35052619G>A NCBI36
NG_011884.2:g.66391C>T , LRG_567:g.66391C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.552C>T MANE Select NP_002464.1:p.Thr184=
ENST00000216181.11:c.552C>T MANE Select ENSP00000216181.6:p.Thr184=
NM_002473.5:c.552C>T , LRG_567t1:c.552C>T NP_002464.1:p.Thr184=
ENST00000216181.9:c.552C>T ENSP00000216181.5:p.Thr184=
ENST00000401701.1:c.552C>T ENSP00000384631.1:p.Thr184=
ENST00000463027.1:n.156C>T
ENST00000685187.1:n.766C>T
ENST00000685191.1:n.775C>T
ENST00000685801.1:c.552C>T ENSP00000510688.1:p.Thr184=
ENST00000688137.1:c.552C>T ENSP00000510189.1:p.Thr184=
ENST00000691296.1:c.552C>T ENSP00000509816.1:p.Thr184=
ENST00000691687.1:n.766C>T
ENST00000692930.1:n.766C>T
XM_011530197.1:c.552C>T XP_011528499.1:p.Thr184=
XM_011530197.2:c.552C>T XP_011528499.1:p.Thr184=
XM_017028803.1:c.552C>T XP_016884292.1:p.Thr184=
XM_017028804.1:c.552C>T XP_016884293.1:p.Thr184=
XM_017028805.1:c.552C>T XP_016884294.1:p.Thr184=
XM_017028806.1:c.552C>T XP_016884295.1:p.Thr184=