Canonical Allele Identifier: CA2335095507
Community Standard Title: NM_000540.3(RYR1):c.14863A= (p.Met4955=)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38585997A= , CM000681.2:g.38585997A= GRCh38
NC_000019.9:g.39076637A= , CM000681.1:g.39076637A= GRCh37
NC_000019.8:g.43768477A= NCBI36
NG_008866.1:g.157298A= , LRG_766:g.157298A=

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14863A= MANE Select NP_000531.2:p.Met4955=
ENST00000359596.8:c.14863A= MANE Select ENSP00000352608.2:p.Met4955=
NM_000540.2:c.14863A= , LRG_766t1:c.14863A= NP_000531.2:p.Met4955=
NM_001042723.1:c.14848A= NP_001036188.1:p.Met4950=
NM_001042723.2:c.14848A= NP_001036188.1:p.Met4950=
ENST00000355481.8:c.14848A= ENSP00000347667.3:p.Met4950=
ENST00000359596.7:c.14863A= ENSP00000352608.2:p.Met4955=
ENST00000360985.7:c.14845A= ENSP00000354254.4:p.Met4949=
ENST00000593677.2:c.1799A=
ENST00000688602.1:c.3196A=
ENST00000689936.1:c.3168A=
ENST00000692547.1:n.256A=
XM_006723317.1:c.14845A= XP_006723380.1:p.Met4949=
XM_006723317.2:c.14845A= XP_006723380.1:p.Met4949=
XM_006723319.1:c.14830A= XP_006723382.1:p.Met4944=
XM_006723319.2:c.14830A= XP_006723382.1:p.Met4944=
XM_011527204.1:c.14860A= XP_011525506.1:p.Met4954=
XM_011527205.1:c.14776A= XP_011525507.1:p.Met4926=
XM_011527205.2:c.14776A= XP_011525507.1:p.Met4926=