Canonical Allele Identifier: CA080389

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034016G>A (hg19) ; chr19:g.38543376G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543376G>A , CM000681.2:g.38543376G>A	GRCh38
NC_000019.9:g.39034016G>A , CM000681.1:g.39034016G>A	GRCh37
NC_000019.8:g.43725856G>A	NCBI36
NG_008866.1:g.114677G>A , LRG_766:g.114677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.129G>A
ENST00000689936.1:c.111G>A
ENST00000359596.8:c.11719G>A MANE Select	ENSP00000352608.2:p.Gly3907Arg
ENST00000355481.8:c.11704G>A	ENSP00000347667.3:p.Gly3902Arg
ENST00000359596.7:c.11719G>A	ENSP00000352608.2:p.Gly3907Arg
ENST00000360985.7:c.11701G>A	ENSP00000354254.4:p.Gly3901Arg
ENST00000593322.1:c.328G>A
ENST00000594335.5:c.5088G>A
NM_000540.2:c.11719G>A , LRG_766t1:c.11719G>A	NP_000531.2:p.Gly3907Arg
NM_001042723.1:c.11704G>A	NP_001036188.1:p.Gly3902Arg
XM_006723317.1:c.11701G>A	XP_006723380.1:p.Gly3901Arg
XM_006723319.1:c.11686G>A	XP_006723382.1:p.Gly3896Arg
XM_011527204.1:c.11716G>A	XP_011525506.1:p.Gly3906Arg
XM_011527205.1:c.11719G>A	XP_011525507.1:p.Gly3907Arg
XM_006723317.2:c.11701G>A	XP_006723380.1:p.Gly3901Arg
XM_006723319.2:c.11686G>A	XP_006723382.1:p.Gly3896Arg
XM_011527205.2:c.11719G>A	XP_011525507.1:p.Gly3907Arg
NM_000540.3:c.11719G>A MANE Select	NP_000531.2:p.Gly3907Arg
NM_001042723.2:c.11704G>A	NP_001036188.1:p.Gly3902Arg