Canonical Allele Identifier: CA405690041

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39075586T>G (hg19) ; chr19:g.38584946T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584946T>G , CM000681.2:g.38584946T>G	GRCh38
NC_000019.9:g.39075586T>G , CM000681.1:g.39075586T>G	GRCh37
NC_000019.8:g.43767426T>G	NCBI36
NG_008866.1:g.156247T>G , LRG_766:g.156247T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1586T>G
ENST00000688602.1:c.2983T>G
ENST00000689936.1:c.2955T>G
ENST00000692547.1:n.43T>G
ENST00000359596.8:c.14650T>G MANE Select	ENSP00000352608.2:p.Tyr4884Asp
ENST00000355481.8:c.14635T>G	ENSP00000347667.3:p.Tyr4879Asp
ENST00000359596.7:c.14650T>G	ENSP00000352608.2:p.Tyr4884Asp
ENST00000360985.7:c.14632T>G	ENSP00000354254.4:p.Tyr4878Asp
NM_000540.2:c.14650T>G , LRG_766t1:c.14650T>G	NP_000531.2:p.Tyr4884Asp
NM_001042723.1:c.14635T>G	NP_001036188.1:p.Tyr4879Asp
XM_006723317.1:c.14632T>G	XP_006723380.1:p.Tyr4878Asp
XM_006723319.1:c.14617T>G	XP_006723382.1:p.Tyr4873Asp
XM_011527204.1:c.14647T>G	XP_011525506.1:p.Tyr4883Asp
XM_011527205.1:c.14563T>G	XP_011525507.1:p.Tyr4855Asp
XM_006723317.2:c.14632T>G	XP_006723380.1:p.Tyr4878Asp
XM_006723319.2:c.14617T>G	XP_006723382.1:p.Tyr4873Asp
XM_011527205.2:c.14563T>G	XP_011525507.1:p.Tyr4855Asp
NM_000540.3:c.14650T>G MANE Select	NP_000531.2:p.Tyr4884Asp
NM_001042723.2:c.14635T>G	NP_001036188.1:p.Tyr4879Asp