Canonical Allele Identifier: CA061378

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580395C>G , CM000681.2:g.38580395C>G	GRCh38
NC_000019.9:g.39071035C>G , CM000681.1:g.39071035C>G	GRCh37
NC_000019.8:g.43762875C>G	NCBI36
NG_008866.1:g.151696C>G , LRG_766:g.151696C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14537C>G MANE Select	NP_000531.2:p.Ala4846Gly
ENST00000359596.8:c.14537C>G MANE Select	ENSP00000352608.2:p.Ala4846Gly
NM_000540.2:c.14537C>G , LRG_766t1:c.14537C>G	NP_000531.2:p.Ala4846Gly
NM_001042723.1:c.14522C>G	NP_001036188.1:p.Ala4841Gly
NM_001042723.2:c.14522C>G	NP_001036188.1:p.Ala4841Gly
ENST00000355481.8:c.14522C>G	ENSP00000347667.3:p.Ala4841Gly
ENST00000359596.7:c.14537C>G	ENSP00000352608.2:p.Ala4846Gly
ENST00000360985.7:c.14519C>G	ENSP00000354254.4:p.Ala4840Gly
ENST00000593677.2:c.1473C>G
ENST00000688602.1:c.2870C>G
ENST00000689936.1:c.2842C>G
XM_006723317.1:c.14519C>G	XP_006723380.1:p.Ala4840Gly
XM_006723317.2:c.14519C>G	XP_006723380.1:p.Ala4840Gly
XM_006723319.1:c.14504C>G	XP_006723382.1:p.Ala4835Gly
XM_006723319.2:c.14504C>G	XP_006723382.1:p.Ala4835Gly
XM_011527204.1:c.14534C>G	XP_011525506.1:p.Ala4845Gly
XM_011527205.1:c.14450C>G	XP_011525507.1:p.Ala4817Gly
XM_011527205.2:c.14450C>G	XP_011525507.1:p.Ala4817Gly