Canonical Allele Identifier: CA405687950

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39071109G>T (hg19) ; chr19:g.38580469G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580469G>T , CM000681.2:g.38580469G>T	GRCh38
NC_000019.9:g.39071109G>T , CM000681.1:g.39071109G>T	GRCh37
NC_000019.8:g.43762949G>T	NCBI36
NG_008866.1:g.151770G>T , LRG_766:g.151770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1547G>T
ENST00000688602.1:c.2944G>T
ENST00000689936.1:c.2916G>T
ENST00000359596.8:c.14611G>T MANE Select	ENSP00000352608.2:p.Asp4871Tyr
ENST00000355481.8:c.14596G>T	ENSP00000347667.3:p.Asp4866Tyr
ENST00000359596.7:c.14611G>T	ENSP00000352608.2:p.Asp4871Tyr
ENST00000360985.7:c.14593G>T	ENSP00000354254.4:p.Asp4865Tyr
NM_000540.2:c.14611G>T , LRG_766t1:c.14611G>T	NP_000531.2:p.Asp4871Tyr
NM_001042723.1:c.14596G>T	NP_001036188.1:p.Asp4866Tyr
XM_006723317.1:c.14593G>T	XP_006723380.1:p.Asp4865Tyr
XM_006723319.1:c.14578G>T	XP_006723382.1:p.Asp4860Tyr
XM_011527204.1:c.14608G>T	XP_011525506.1:p.Asp4870Tyr
XM_011527205.1:c.14524G>T	XP_011525507.1:p.Asp4842Tyr
XM_006723317.2:c.14593G>T	XP_006723380.1:p.Asp4865Tyr
XM_006723319.2:c.14578G>T	XP_006723382.1:p.Asp4860Tyr
XM_011527205.2:c.14524G>T	XP_011525507.1:p.Asp4842Tyr
NM_000540.3:c.14611G>T MANE Select	NP_000531.2:p.Asp4871Tyr
NM_001042723.2:c.14596G>T	NP_001036188.1:p.Asp4866Tyr