Canonical Allele Identifier: CA507245142

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063852G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573212G>A , CM000681.2:g.38573212G>A	GRCh38
NC_000019.9:g.39063852G>A , CM000681.1:g.39063852G>A	GRCh37
NC_000019.8:g.43755692G>A	NCBI36
NG_008866.1:g.144513G>A , LRG_766:g.144513G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.970G>A
ENST00000688602.1:c.2367G>A
ENST00000689936.1:c.2339G>A
ENST00000359596.8:c.14034G>A MANE Select	ENSP00000352608.2:p.Leu4678=
ENST00000355481.8:c.14019G>A	ENSP00000347667.3:p.Leu4673=
ENST00000359596.7:c.14034G>A	ENSP00000352608.2:p.Leu4678=
ENST00000360985.7:c.14016G>A	ENSP00000354254.4:p.Leu4672=
NM_000540.2:c.14034G>A , LRG_766t1:c.14034G>A	NP_000531.2:p.Leu4678=
NM_001042723.1:c.14019G>A	NP_001036188.1:p.Leu4673=
XM_006723317.1:c.14016G>A	XP_006723380.1:p.Leu4672=
XM_006723319.1:c.14001G>A	XP_006723382.1:p.Leu4667=
XM_011527204.1:c.14031G>A	XP_011525506.1:p.Leu4677=
XM_011527205.1:c.13947G>A	XP_011525507.1:p.Leu4649=
XM_006723317.2:c.14016G>A	XP_006723380.1:p.Leu4672=
XM_006723319.2:c.14001G>A	XP_006723382.1:p.Leu4667=
XM_011527205.2:c.13947G>A	XP_011525507.1:p.Leu4649=
NM_000540.3:c.14034G>A MANE Select	NP_000531.2:p.Leu4678=
NM_001042723.2:c.14019G>A	NP_001036188.1:p.Leu4673=