Canonical Allele Identifier: CA507355654
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39055914C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565274C>A , CM000681.2:g.38565274C>A GRCh38
NC_000019.9:g.39055914C>A , CM000681.1:g.39055914C>A GRCh37
NC_000019.8:g.43747754C>A NCBI36
NG_008866.1:g.136575C>A , LRG_766:g.136575C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1350C>A
ENST00000689936.1:c.1332C>A
ENST00000359596.8:c.12940C>A MANE Select ENSP00000352608.2:p.Arg4314=
ENST00000355481.8:c.12925C>A ENSP00000347667.3:p.Arg4309=
ENST00000359596.7:c.12940C>A ENSP00000352608.2:p.Arg4314=
ENST00000360985.7:c.12922C>A ENSP00000354254.4:p.Arg4308=
NM_000540.2:c.12940C>A , LRG_766t1:c.12940C>A NP_000531.2:p.Arg4314=
NM_001042723.1:c.12925C>A NP_001036188.1:p.Arg4309=
XM_006723317.1:c.12922C>A XP_006723380.1:p.Arg4308=
XM_006723319.1:c.12907C>A XP_006723382.1:p.Arg4303=
XM_011527204.1:c.12937C>A XP_011525506.1:p.Arg4313=
XM_011527205.1:c.12940C>A XP_011525507.1:p.Arg4314=
XM_006723317.2:c.12922C>A XP_006723380.1:p.Arg4308=
XM_006723319.2:c.12907C>A XP_006723382.1:p.Arg4303=
XM_011527205.2:c.12940C>A XP_011525507.1:p.Arg4314=
NM_000540.3:c.12940C>A MANE Select NP_000531.2:p.Arg4314=
NM_001042723.2:c.12925C>A NP_001036188.1:p.Arg4309=