Canonical Allele Identifier: CA405662875

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034466T>G (hg19) ; chr19:g.38543826T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543826T>G , CM000681.2:g.38543826T>G	GRCh38
NC_000019.9:g.39034466T>G , CM000681.1:g.39034466T>G	GRCh37
NC_000019.8:g.43726306T>G	NCBI36
NG_008866.1:g.115127T>G , LRG_766:g.115127T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.373T>G
ENST00000689936.1:c.355T>G
ENST00000359596.8:c.11963T>G MANE Select	ENSP00000352608.2:p.Val3988Gly
ENST00000355481.8:c.11948T>G	ENSP00000347667.3:p.Val3983Gly
ENST00000359596.7:c.11963T>G	ENSP00000352608.2:p.Val3988Gly
ENST00000360985.7:c.11945T>G	ENSP00000354254.4:p.Val3982Gly
ENST00000593322.1:c.572T>G
ENST00000594335.5:c.5332T>G
NM_000540.2:c.11963T>G , LRG_766t1:c.11963T>G	NP_000531.2:p.Val3988Gly
NM_001042723.1:c.11948T>G	NP_001036188.1:p.Val3983Gly
XM_006723317.1:c.11945T>G	XP_006723380.1:p.Val3982Gly
XM_006723319.1:c.11930T>G	XP_006723382.1:p.Val3977Gly
XM_011527204.1:c.11960T>G	XP_011525506.1:p.Val3987Gly
XM_011527205.1:c.11963T>G	XP_011525507.1:p.Val3988Gly
XM_006723317.2:c.11945T>G	XP_006723380.1:p.Val3982Gly
XM_006723319.2:c.11930T>G	XP_006723382.1:p.Val3977Gly
XM_011527205.2:c.11963T>G	XP_011525507.1:p.Val3988Gly
NM_000540.3:c.11963T>G MANE Select	NP_000531.2:p.Val3988Gly
NM_001042723.2:c.11948T>G	NP_001036188.1:p.Val3983Gly