Canonical Allele Identifier: CA507355969

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070663G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580023G>A , CM000681.2:g.38580023G>A	GRCh38
NC_000019.9:g.39070663G>A , CM000681.1:g.39070663G>A	GRCh37
NC_000019.8:g.43762503G>A	NCBI36
NG_008866.1:g.151324G>A , LRG_766:g.151324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1342G>A
ENST00000688602.1:c.2739G>A
ENST00000689936.1:c.2711G>A
ENST00000359596.8:c.14406G>A MANE Select	ENSP00000352608.2:p.Leu4802=
ENST00000355481.8:c.14391G>A	ENSP00000347667.3:p.Leu4797=
ENST00000359596.7:c.14406G>A	ENSP00000352608.2:p.Leu4802=
ENST00000360985.7:c.14388G>A	ENSP00000354254.4:p.Leu4796=
NM_000540.2:c.14406G>A , LRG_766t1:c.14406G>A	NP_000531.2:p.Leu4802=
NM_001042723.1:c.14391G>A	NP_001036188.1:p.Leu4797=
XM_006723317.1:c.14388G>A	XP_006723380.1:p.Leu4796=
XM_006723319.1:c.14373G>A	XP_006723382.1:p.Leu4791=
XM_011527204.1:c.14403G>A	XP_011525506.1:p.Leu4801=
XM_011527205.1:c.14319G>A	XP_011525507.1:p.Leu4773=
XM_006723317.2:c.14388G>A	XP_006723380.1:p.Leu4796=
XM_006723319.2:c.14373G>A	XP_006723382.1:p.Leu4791=
XM_011527205.2:c.14319G>A	XP_011525507.1:p.Leu4773=
NM_000540.3:c.14406G>A MANE Select	NP_000531.2:p.Leu4802=
NM_001042723.2:c.14391G>A	NP_001036188.1:p.Leu4797=