Canonical Allele Identifier: CA405662925

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034483G>T (hg19) ; chr19:g.38543843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543843G>T , CM000681.2:g.38543843G>T	GRCh38
NC_000019.9:g.39034483G>T , CM000681.1:g.39034483G>T	GRCh37
NC_000019.8:g.43726323G>T	NCBI36
NG_008866.1:g.115144G>T , LRG_766:g.115144G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.390G>T
ENST00000689936.1:c.372G>T
ENST00000359596.8:c.11980G>T MANE Select	ENSP00000352608.2:p.Val3994Leu
ENST00000355481.8:c.11965G>T	ENSP00000347667.3:p.Val3989Leu
ENST00000359596.7:c.11980G>T	ENSP00000352608.2:p.Val3994Leu
ENST00000360985.7:c.11962G>T	ENSP00000354254.4:p.Val3988Leu
ENST00000593322.1:c.589G>T
ENST00000594335.5:c.5349G>T
NM_000540.2:c.11980G>T , LRG_766t1:c.11980G>T	NP_000531.2:p.Val3994Leu
NM_001042723.1:c.11965G>T	NP_001036188.1:p.Val3989Leu
XM_006723317.1:c.11962G>T	XP_006723380.1:p.Val3988Leu
XM_006723319.1:c.11947G>T	XP_006723382.1:p.Val3983Leu
XM_011527204.1:c.11977G>T	XP_011525506.1:p.Val3993Leu
XM_011527205.1:c.11980G>T	XP_011525507.1:p.Val3994Leu
XM_006723317.2:c.11962G>T	XP_006723380.1:p.Val3988Leu
XM_006723319.2:c.11947G>T	XP_006723382.1:p.Val3983Leu
XM_011527205.2:c.11980G>T	XP_011525507.1:p.Val3994Leu
NM_000540.3:c.11980G>T MANE Select	NP_000531.2:p.Val3994Leu
NM_001042723.2:c.11965G>T	NP_001036188.1:p.Val3989Leu