Canonical Allele Identifier: CA405694126

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39077991A>T (hg19) ; chr19:g.38587351A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587351A>T , CM000681.2:g.38587351A>T	GRCh38
NC_000019.9:g.39077991A>T , CM000681.1:g.39077991A>T	GRCh37
NC_000019.8:g.43769831A>T	NCBI36
NG_008866.1:g.158652A>T , LRG_766:g.158652A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+775A>T
ENST00000688602.1:c.3381A>T
ENST00000689936.1:c.3353A>T
ENST00000692547.1:n.441A>T
ENST00000359596.8:c.15048A>T MANE Select	ENSP00000352608.2:p.Gln5016His
ENST00000355481.8:c.15033A>T	ENSP00000347667.3:p.Gln5011His
ENST00000359596.7:c.15048A>T	ENSP00000352608.2:p.Gln5016His
ENST00000360985.7:c.15030A>T	ENSP00000354254.4:p.Gln5010His
NM_000540.2:c.15048A>T , LRG_766t1:c.15048A>T	NP_000531.2:p.Gln5016His
NM_001042723.1:c.15033A>T	NP_001036188.1:p.Gln5011His
XM_006723317.1:c.15030A>T	XP_006723380.1:p.Gln5010His
XM_006723319.1:c.15015A>T	XP_006723382.1:p.Gln5005His
XM_011527204.1:c.15045A>T	XP_011525506.1:p.Gln5015His
XM_011527205.1:c.14961A>T	XP_011525507.1:p.Gln4987His
XM_006723317.2:c.15030A>T	XP_006723380.1:p.Gln5010His
XM_006723319.2:c.15015A>T	XP_006723382.1:p.Gln5005His
XM_011527205.2:c.14961A>T	XP_011525507.1:p.Gln4987His
NM_000540.3:c.15048A>T MANE Select	NP_000531.2:p.Gln5016His
NM_001042723.2:c.15033A>T	NP_001036188.1:p.Gln5011His