Canonical Allele Identifier: CA052950

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329098
• ClinVar RCV Id: RCV000299463 ; RCV000354208 ; RCV000391270 ; RCV000403332 ; RCV001491002
• dbSNP Id: rs778171066
• ExAC: 19:39013671 G / A
• gnomAD v2: 19-39013671-G-A
• gnomAD v3: 19-38523031-G-A
• gnomAD v4: 19-38523031-G-A
• COSMIC: COSM5158993
• MyVariant Identifiers: chr19:g.39013671G>A (hg19) ; chr19:g.38523031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38523031G>A , CM000681.2:g.38523031G>A	GRCh38
NC_000019.9:g.39013671G>A , CM000681.1:g.39013671G>A	GRCh37
NC_000019.8:g.43705511G>A	NCBI36
NG_008866.1:g.94332G>A , LRG_766:g.94332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.10202G>A	ENSP00000471601.2:n.10202G>A
ENST00000359596.8:c.10263G>A MANE Select	ENSP00000352608.2:p.Ala3421=
ENST00000355481.8:c.10263G>A	ENSP00000347667.3:p.Ala3421=
ENST00000359596.7:c.10263G>A	ENSP00000352608.2:p.Ala3421=
ENST00000360985.7:c.10260G>A	ENSP00000354254.4:p.Ala3420=
ENST00000594335.5:c.3665G>A
ENST00000599547.5:c.1070G>A
NM_000540.2:c.10263G>A , LRG_766t1:c.10263G>A	NP_000531.2:p.Ala3421=
NM_001042723.1:c.10263G>A	NP_001036188.1:p.Ala3421=
XM_006723317.1:c.10263G>A	XP_006723380.1:p.Ala3421=
XM_006723319.1:c.10263G>A	XP_006723382.1:p.Ala3421=
XM_011527204.1:c.10260G>A	XP_011525506.1:p.Ala3420=
XM_011527205.1:c.10263G>A	XP_011525507.1:p.Ala3421=
XM_006723317.2:c.10263G>A	XP_006723380.1:p.Ala3421=
XM_006723319.2:c.10263G>A	XP_006723382.1:p.Ala3421=
XM_011527205.2:c.10263G>A	XP_011525507.1:p.Ala3421=
NM_000540.3:c.10263G>A MANE Select	NP_000531.2:p.Ala3421=
NM_001042723.2:c.10263G>A	NP_001036188.1:p.Ala3421=