Canonical Allele Identifier: CA405690807

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39075688G>T (hg19) ; chr19:g.38585048G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585048G>T , CM000681.2:g.38585048G>T	GRCh38
NC_000019.9:g.39075688G>T , CM000681.1:g.39075688G>T	GRCh37
NC_000019.8:g.43767528G>T	NCBI36
NG_008866.1:g.156349G>T , LRG_766:g.156349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1688G>T
ENST00000688602.1:c.3085G>T
ENST00000689936.1:c.3057G>T
ENST00000692547.1:n.145G>T
ENST00000359596.8:c.14752G>T MANE Select	ENSP00000352608.2:p.Asp4918Tyr
ENST00000355481.8:c.14737G>T	ENSP00000347667.3:p.Asp4913Tyr
ENST00000359596.7:c.14752G>T	ENSP00000352608.2:p.Asp4918Tyr
ENST00000360985.7:c.14734G>T	ENSP00000354254.4:p.Asp4912Tyr
NM_000540.2:c.14752G>T , LRG_766t1:c.14752G>T	NP_000531.2:p.Asp4918Tyr
NM_001042723.1:c.14737G>T	NP_001036188.1:p.Asp4913Tyr
XM_006723317.1:c.14734G>T	XP_006723380.1:p.Asp4912Tyr
XM_006723319.1:c.14719G>T	XP_006723382.1:p.Asp4907Tyr
XM_011527204.1:c.14749G>T	XP_011525506.1:p.Asp4917Tyr
XM_011527205.1:c.14665G>T	XP_011525507.1:p.Asp4889Tyr
XM_006723317.2:c.14734G>T	XP_006723380.1:p.Asp4912Tyr
XM_006723319.2:c.14719G>T	XP_006723382.1:p.Asp4907Tyr
XM_011527205.2:c.14665G>T	XP_011525507.1:p.Asp4889Tyr
NM_000540.3:c.14752G>T MANE Select	NP_000531.2:p.Asp4918Tyr
NM_001042723.2:c.14737G>T	NP_001036188.1:p.Asp4913Tyr