Canonical Allele Identifier: CA081354

Gene: RYR1

Linked Data

• dbSNP Id: rs193922898
• ExAC: 19:39076741 T / G
• gnomAD v2: 19-39076741-T-G
• MyVariant Identifiers: chr19:g.39076741T>G (hg19) ; chr19:g.38586101T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586101T>G , CM000681.2:g.38586101T>G	GRCh38
NC_000019.9:g.39076741T>G , CM000681.1:g.39076741T>G	GRCh37
NC_000019.8:g.43768581T>G	NCBI36
NG_008866.1:g.157402T>G , LRG_766:g.157402T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1815T>G
ENST00000688602.1:c.3212T>G
ENST00000689936.1:c.3184T>G
ENST00000692547.1:n.272T>G
ENST00000359596.8:c.14879T>G MANE Select	ENSP00000352608.2:p.Phe4960Cys
ENST00000355481.8:c.14864T>G	ENSP00000347667.3:p.Phe4955Cys
ENST00000359596.7:c.14879T>G	ENSP00000352608.2:p.Phe4960Cys
ENST00000360985.7:c.14861T>G	ENSP00000354254.4:p.Phe4954Cys
NM_000540.2:c.14879T>G , LRG_766t1:c.14879T>G	NP_000531.2:p.Phe4960Cys
NM_001042723.1:c.14864T>G	NP_001036188.1:p.Phe4955Cys
XM_006723317.1:c.14861T>G	XP_006723380.1:p.Phe4954Cys
XM_006723319.1:c.14846T>G	XP_006723382.1:p.Phe4949Cys
XM_011527204.1:c.14876T>G	XP_011525506.1:p.Phe4959Cys
XM_011527205.1:c.14792T>G	XP_011525507.1:p.Phe4931Cys
XM_006723317.2:c.14861T>G	XP_006723380.1:p.Phe4954Cys
XM_006723319.2:c.14846T>G	XP_006723382.1:p.Phe4949Cys
XM_011527205.2:c.14792T>G	XP_011525507.1:p.Phe4931Cys
NM_000540.3:c.14879T>G MANE Select	NP_000531.2:p.Phe4960Cys
NM_001042723.2:c.14864T>G	NP_001036188.1:p.Phe4955Cys