Canonical Allele Identifier: CA507356095

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2698141
• ClinVar RCV Id: RCV003592471
• dbSNP Id: rs2145896517
• MyVariant Identifiers: chr19:g.39071051G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580411G>A , CM000681.2:g.38580411G>A	GRCh38
NC_000019.9:g.39071051G>A , CM000681.1:g.39071051G>A	GRCh37
NC_000019.8:g.43762891G>A	NCBI36
NG_008866.1:g.151712G>A , LRG_766:g.151712G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1489G>A
ENST00000688602.1:c.2886G>A
ENST00000689936.1:c.2858G>A
ENST00000359596.8:c.14553G>A MANE Select	ENSP00000352608.2:p.Leu4851=
ENST00000355481.8:c.14538G>A	ENSP00000347667.3:p.Leu4846=
ENST00000359596.7:c.14553G>A	ENSP00000352608.2:p.Leu4851=
ENST00000360985.7:c.14535G>A	ENSP00000354254.4:p.Leu4845=
NM_000540.2:c.14553G>A , LRG_766t1:c.14553G>A	NP_000531.2:p.Leu4851=
NM_001042723.1:c.14538G>A	NP_001036188.1:p.Leu4846=
XM_006723317.1:c.14535G>A	XP_006723380.1:p.Leu4845=
XM_006723319.1:c.14520G>A	XP_006723382.1:p.Leu4840=
XM_011527204.1:c.14550G>A	XP_011525506.1:p.Leu4850=
XM_011527205.1:c.14466G>A	XP_011525507.1:p.Leu4822=
XM_006723317.2:c.14535G>A	XP_006723380.1:p.Leu4845=
XM_006723319.2:c.14520G>A	XP_006723382.1:p.Leu4840=
XM_011527205.2:c.14466G>A	XP_011525507.1:p.Leu4822=
NM_000540.3:c.14553G>A MANE Select	NP_000531.2:p.Leu4851=
NM_001042723.2:c.14538G>A	NP_001036188.1:p.Leu4846=