Canonical Allele Identifier: CA405662853

Gene: RYR1

Linked Data

• gnomAD v4: 19-38543817-G-A
• MyVariant Identifiers: chr19:g.39034457G>A (hg19) ; chr19:g.38543817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543817G>A , CM000681.2:g.38543817G>A	GRCh38
NC_000019.9:g.39034457G>A , CM000681.1:g.39034457G>A	GRCh37
NC_000019.8:g.43726297G>A	NCBI36
NG_008866.1:g.115118G>A , LRG_766:g.115118G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.364G>A
ENST00000689936.1:c.346G>A
ENST00000359596.8:c.11954G>A MANE Select	ENSP00000352608.2:p.Trp3985Ter
ENST00000355481.8:c.11939G>A	ENSP00000347667.3:p.Trp3980Ter
ENST00000359596.7:c.11954G>A	ENSP00000352608.2:p.Trp3985Ter
ENST00000360985.7:c.11936G>A	ENSP00000354254.4:p.Trp3979Ter
ENST00000593322.1:c.563G>A
ENST00000594335.5:c.5323G>A
NM_000540.2:c.11954G>A , LRG_766t1:c.11954G>A	NP_000531.2:p.Trp3985Ter
NM_001042723.1:c.11939G>A	NP_001036188.1:p.Trp3980Ter
XM_006723317.1:c.11936G>A	XP_006723380.1:p.Trp3979Ter
XM_006723319.1:c.11921G>A	XP_006723382.1:p.Trp3974Ter
XM_011527204.1:c.11951G>A	XP_011525506.1:p.Trp3984Ter
XM_011527205.1:c.11954G>A	XP_011525507.1:p.Trp3985Ter
XM_006723317.2:c.11936G>A	XP_006723380.1:p.Trp3979Ter
XM_006723319.2:c.11921G>A	XP_006723382.1:p.Trp3974Ter
XM_011527205.2:c.11954G>A	XP_011525507.1:p.Trp3985Ter
NM_000540.3:c.11954G>A MANE Select	NP_000531.2:p.Trp3985Ter
NM_001042723.2:c.11939G>A	NP_001036188.1:p.Trp3980Ter