Canonical Allele Identifier: CA405690486

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39075650C>T (hg19) ; chr19:g.38585010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585010C>T , CM000681.2:g.38585010C>T	GRCh38
NC_000019.9:g.39075650C>T , CM000681.1:g.39075650C>T	GRCh37
NC_000019.8:g.43767490C>T	NCBI36
NG_008866.1:g.156311C>T , LRG_766:g.156311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1650C>T
ENST00000688602.1:c.3047C>T
ENST00000689936.1:c.3019C>T
ENST00000692547.1:n.107C>T
ENST00000359596.8:c.14714C>T MANE Select	ENSP00000352608.2:p.Pro4905Leu
ENST00000355481.8:c.14699C>T	ENSP00000347667.3:p.Pro4900Leu
ENST00000359596.7:c.14714C>T	ENSP00000352608.2:p.Pro4905Leu
ENST00000360985.7:c.14696C>T	ENSP00000354254.4:p.Pro4899Leu
NM_000540.2:c.14714C>T , LRG_766t1:c.14714C>T	NP_000531.2:p.Pro4905Leu
NM_001042723.1:c.14699C>T	NP_001036188.1:p.Pro4900Leu
XM_006723317.1:c.14696C>T	XP_006723380.1:p.Pro4899Leu
XM_006723319.1:c.14681C>T	XP_006723382.1:p.Pro4894Leu
XM_011527204.1:c.14711C>T	XP_011525506.1:p.Pro4904Leu
XM_011527205.1:c.14627C>T	XP_011525507.1:p.Pro4876Leu
XM_006723317.2:c.14696C>T	XP_006723380.1:p.Pro4899Leu
XM_006723319.2:c.14681C>T	XP_006723382.1:p.Pro4894Leu
XM_011527205.2:c.14627C>T	XP_011525507.1:p.Pro4876Leu
NM_000540.3:c.14714C>T MANE Select	NP_000531.2:p.Pro4905Leu
NM_001042723.2:c.14699C>T	NP_001036188.1:p.Pro4900Leu