Canonical Allele Identifier: CA405663046

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034510G>C (hg19) ; chr19:g.38543870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543870G>C , CM000681.2:g.38543870G>C	GRCh38
NC_000019.9:g.39034510G>C , CM000681.1:g.39034510G>C	GRCh37
NC_000019.8:g.43726350G>C	NCBI36
NG_008866.1:g.115171G>C , LRG_766:g.115171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.417G>C
ENST00000689936.1:c.399G>C
ENST00000359596.8:c.12007G>C MANE Select	ENSP00000352608.2:p.Ala4003Pro
ENST00000355481.8:c.11992G>C	ENSP00000347667.3:p.Ala3998Pro
ENST00000359596.7:c.12007G>C	ENSP00000352608.2:p.Ala4003Pro
ENST00000360985.7:c.11989G>C	ENSP00000354254.4:p.Ala3997Pro
ENST00000593322.1:c.616G>C
ENST00000594335.5:c.5376G>C
NM_000540.2:c.12007G>C , LRG_766t1:c.12007G>C	NP_000531.2:p.Ala4003Pro
NM_001042723.1:c.11992G>C	NP_001036188.1:p.Ala3998Pro
XM_006723317.1:c.11989G>C	XP_006723380.1:p.Ala3997Pro
XM_006723319.1:c.11974G>C	XP_006723382.1:p.Ala3992Pro
XM_011527204.1:c.12004G>C	XP_011525506.1:p.Ala4002Pro
XM_011527205.1:c.12007G>C	XP_011525507.1:p.Ala4003Pro
XM_006723317.2:c.11989G>C	XP_006723380.1:p.Ala3997Pro
XM_006723319.2:c.11974G>C	XP_006723382.1:p.Ala3992Pro
XM_011527205.2:c.12007G>C	XP_011525507.1:p.Ala4003Pro
NM_000540.3:c.12007G>C MANE Select	NP_000531.2:p.Ala4003Pro
NM_001042723.2:c.11992G>C	NP_001036188.1:p.Ala3998Pro