Canonical Allele Identifier: CA059326

Gene: RYR1

Linked Data

• dbSNP Id: rs752060440
• ExAC: 19:39055641 G / C
• gnomAD v2: 19-39055641-G-C
• gnomAD v4: 19-38565001-G-C
• MyVariant Identifiers: chr19:g.39055641G>C (hg19) ; chr19:g.38565001G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565001G>C , CM000681.2:g.38565001G>C	GRCh38
NC_000019.9:g.39055641G>C , CM000681.1:g.39055641G>C	GRCh37
NC_000019.8:g.43747481G>C	NCBI36
NG_008866.1:g.136302G>C , LRG_766:g.136302G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1077G>C
ENST00000689936.1:c.1059G>C
ENST00000359596.8:c.12667G>C MANE Select	ENSP00000352608.2:p.Glu4223Gln
ENST00000355481.8:c.12652G>C	ENSP00000347667.3:p.Glu4218Gln
ENST00000359596.7:c.12667G>C	ENSP00000352608.2:p.Glu4223Gln
ENST00000360985.7:c.12649G>C	ENSP00000354254.4:p.Glu4217Gln
ENST00000594335.5:c.6036G>C
NM_000540.2:c.12667G>C , LRG_766t1:c.12667G>C	NP_000531.2:p.Glu4223Gln
NM_001042723.1:c.12652G>C	NP_001036188.1:p.Glu4218Gln
XM_006723317.1:c.12649G>C	XP_006723380.1:p.Glu4217Gln
XM_006723319.1:c.12634G>C	XP_006723382.1:p.Glu4212Gln
XM_011527204.1:c.12664G>C	XP_011525506.1:p.Glu4222Gln
XM_011527205.1:c.12667G>C	XP_011525507.1:p.Glu4223Gln
XM_006723317.2:c.12649G>C	XP_006723380.1:p.Glu4217Gln
XM_006723319.2:c.12634G>C	XP_006723382.1:p.Glu4212Gln
XM_011527205.2:c.12667G>C	XP_011525507.1:p.Glu4223Gln
NM_000540.3:c.12667G>C MANE Select	NP_000531.2:p.Glu4223Gln
NM_001042723.2:c.12652G>C	NP_001036188.1:p.Glu4218Gln