Canonical Allele Identifier: CA405693004

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076779C>A (hg19) ; chr19:g.38586139C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586139C>A , CM000681.2:g.38586139C>A	GRCh38
NC_000019.9:g.39076779C>A , CM000681.1:g.39076779C>A	GRCh37
NC_000019.8:g.43768619C>A	NCBI36
NG_008866.1:g.157440C>A , LRG_766:g.157440C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1853C>A
ENST00000688602.1:c.3250C>A
ENST00000689936.1:c.3222C>A
ENST00000692547.1:n.310C>A
ENST00000359596.8:c.14917C>A MANE Select	ENSP00000352608.2:p.Pro4973Thr
ENST00000355481.8:c.14902C>A	ENSP00000347667.3:p.Pro4968Thr
ENST00000359596.7:c.14917C>A	ENSP00000352608.2:p.Pro4973Thr
ENST00000360985.7:c.14899C>A	ENSP00000354254.4:p.Pro4967Thr
NM_000540.2:c.14917C>A , LRG_766t1:c.14917C>A	NP_000531.2:p.Pro4973Thr
NM_001042723.1:c.14902C>A	NP_001036188.1:p.Pro4968Thr
XM_006723317.1:c.14899C>A	XP_006723380.1:p.Pro4967Thr
XM_006723319.1:c.14884C>A	XP_006723382.1:p.Pro4962Thr
XM_011527204.1:c.14914C>A	XP_011525506.1:p.Pro4972Thr
XM_011527205.1:c.14830C>A	XP_011525507.1:p.Pro4944Thr
XM_006723317.2:c.14899C>A	XP_006723380.1:p.Pro4967Thr
XM_006723319.2:c.14884C>A	XP_006723382.1:p.Pro4962Thr
XM_011527205.2:c.14830C>A	XP_011525507.1:p.Pro4944Thr
NM_000540.3:c.14917C>A MANE Select	NP_000531.2:p.Pro4973Thr
NM_001042723.2:c.14902C>A	NP_001036188.1:p.Pro4968Thr