Canonical Allele Identifier: CA405682292

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063882C>A (hg19) ; chr19:g.38573242C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573242C>A , CM000681.2:g.38573242C>A	GRCh38
NC_000019.9:g.39063882C>A , CM000681.1:g.39063882C>A	GRCh37
NC_000019.8:g.43755722C>A	NCBI36
NG_008866.1:g.144543C>A , LRG_766:g.144543C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1000C>A
ENST00000688602.1:c.2397C>A
ENST00000689936.1:c.2369C>A
ENST00000359596.8:c.14064C>A MANE Select	ENSP00000352608.2:p.Tyr4688Ter
ENST00000355481.8:c.14049C>A	ENSP00000347667.3:p.Tyr4683Ter
ENST00000359596.7:c.14064C>A	ENSP00000352608.2:p.Tyr4688Ter
ENST00000360985.7:c.14046C>A	ENSP00000354254.4:p.Tyr4682Ter
NM_000540.2:c.14064C>A , LRG_766t1:c.14064C>A	NP_000531.2:p.Tyr4688Ter
NM_001042723.1:c.14049C>A	NP_001036188.1:p.Tyr4683Ter
XM_006723317.1:c.14046C>A	XP_006723380.1:p.Tyr4682Ter
XM_006723319.1:c.14031C>A	XP_006723382.1:p.Tyr4677Ter
XM_011527204.1:c.14061C>A	XP_011525506.1:p.Tyr4687Ter
XM_011527205.1:c.13977C>A	XP_011525507.1:p.Tyr4659Ter
XM_006723317.2:c.14046C>A	XP_006723380.1:p.Tyr4682Ter
XM_006723319.2:c.14031C>A	XP_006723382.1:p.Tyr4677Ter
XM_011527205.2:c.13977C>A	XP_011525507.1:p.Tyr4659Ter
NM_000540.3:c.14064C>A MANE Select	NP_000531.2:p.Tyr4688Ter
NM_001042723.2:c.14049C>A	NP_001036188.1:p.Tyr4683Ter