Canonical Allele Identifier: CA405661908

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034218T>G (hg19) ; chr19:g.38543578T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543578T>G , CM000681.2:g.38543578T>G	GRCh38
NC_000019.9:g.39034218T>G , CM000681.1:g.39034218T>G	GRCh37
NC_000019.8:g.43726058T>G	NCBI36
NG_008866.1:g.114879T>G , LRG_766:g.114879T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.235T>G
ENST00000689936.1:c.217T>G
ENST00000359596.8:c.11825T>G MANE Select	ENSP00000352608.2:p.Ile3942Ser
ENST00000355481.8:c.11810T>G	ENSP00000347667.3:p.Ile3937Ser
ENST00000359596.7:c.11825T>G	ENSP00000352608.2:p.Ile3942Ser
ENST00000360985.7:c.11807T>G	ENSP00000354254.4:p.Ile3936Ser
ENST00000593322.1:c.434T>G
ENST00000594335.5:c.5194T>G
NM_000540.2:c.11825T>G , LRG_766t1:c.11825T>G	NP_000531.2:p.Ile3942Ser
NM_001042723.1:c.11810T>G	NP_001036188.1:p.Ile3937Ser
XM_006723317.1:c.11807T>G	XP_006723380.1:p.Ile3936Ser
XM_006723319.1:c.11792T>G	XP_006723382.1:p.Ile3931Ser
XM_011527204.1:c.11822T>G	XP_011525506.1:p.Ile3941Ser
XM_011527205.1:c.11825T>G	XP_011525507.1:p.Ile3942Ser
XM_006723317.2:c.11807T>G	XP_006723380.1:p.Ile3936Ser
XM_006723319.2:c.11792T>G	XP_006723382.1:p.Ile3931Ser
XM_011527205.2:c.11825T>G	XP_011525507.1:p.Ile3942Ser
NM_000540.3:c.11825T>G MANE Select	NP_000531.2:p.Ile3942Ser
NM_001042723.2:c.11810T>G	NP_001036188.1:p.Ile3937Ser