Canonical Allele Identifier: CA405673496

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565442G>A , CM000681.2:g.38565442G>A	GRCh38
NC_000019.9:g.39056082G>A , CM000681.1:g.39056082G>A	GRCh37
NC_000019.8:g.43747922G>A	NCBI36
NG_008866.1:g.136743G>A , LRG_766:g.136743G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.13108G>A MANE Select	NP_000531.2:p.Gly4370Ser
ENST00000359596.8:c.13108G>A MANE Select	ENSP00000352608.2:p.Gly4370Ser
NM_000540.2:c.13108G>A , LRG_766t1:c.13108G>A	NP_000531.2:p.Gly4370Ser
NM_001042723.1:c.13093G>A	NP_001036188.1:p.Gly4365Ser
NM_001042723.2:c.13093G>A	NP_001036188.1:p.Gly4365Ser
ENST00000355481.8:c.13093G>A	ENSP00000347667.3:p.Gly4365Ser
ENST00000359596.7:c.13108G>A	ENSP00000352608.2:p.Gly4370Ser
ENST00000360985.7:c.13090G>A	ENSP00000354254.4:p.Gly4364Ser
ENST00000593677.2:c.44G>A
ENST00000688602.1:c.1518G>A
ENST00000689936.1:c.1500G>A
XM_006723317.1:c.13090G>A	XP_006723380.1:p.Gly4364Ser
XM_006723317.2:c.13090G>A	XP_006723380.1:p.Gly4364Ser
XM_006723319.1:c.13075G>A	XP_006723382.1:p.Gly4359Ser
XM_006723319.2:c.13075G>A	XP_006723382.1:p.Gly4359Ser
XM_011527204.1:c.13105G>A	XP_011525506.1:p.Gly4369Ser
XM_011527205.1:c.13108G>A	XP_011525507.1:p.Gly4370Ser
XM_011527205.2:c.13108G>A	XP_011525507.1:p.Gly4370Ser