Canonical Allele Identifier: CA405662855

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034457G>T (hg19) ; chr19:g.38543817G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.364G>T
ENST00000689936.1:c.346G>T
ENST00000359596.8:c.11954G>T MANE Select	ENSP00000352608.2:p.Trp3985Leu
ENST00000355481.8:c.11939G>T	ENSP00000347667.3:p.Trp3980Leu
ENST00000359596.7:c.11954G>T	ENSP00000352608.2:p.Trp3985Leu
ENST00000360985.7:c.11936G>T	ENSP00000354254.4:p.Trp3979Leu
ENST00000593322.1:c.563G>T
ENST00000594335.5:c.5323G>T
NM_000540.2:c.11954G>T , LRG_766t1:c.11954G>T	NP_000531.2:p.Trp3985Leu
NM_001042723.1:c.11939G>T	NP_001036188.1:p.Trp3980Leu
XM_006723317.1:c.11936G>T	XP_006723380.1:p.Trp3979Leu
XM_006723319.1:c.11921G>T	XP_006723382.1:p.Trp3974Leu
XM_011527204.1:c.11951G>T	XP_011525506.1:p.Trp3984Leu
XM_011527205.1:c.11954G>T	XP_011525507.1:p.Trp3985Leu
XM_006723317.2:c.11936G>T	XP_006723380.1:p.Trp3979Leu
XM_006723319.2:c.11921G>T	XP_006723382.1:p.Trp3974Leu
XM_011527205.2:c.11954G>T	XP_011525507.1:p.Trp3985Leu
NM_000540.3:c.11954G>T MANE Select	NP_000531.2:p.Trp3985Leu
NM_001042723.2:c.11939G>T	NP_001036188.1:p.Trp3980Leu