Canonical Allele Identifier: CA308134023

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38523927C>T , CM000681.2:g.38523927C>T	GRCh38
NC_000019.9:g.39014567C>T , CM000681.1:g.39014567C>T	GRCh37
NC_000019.8:g.43706407C>T	NCBI36
NG_008866.1:g.95228C>T , LRG_766:g.95228C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.10453C>T MANE Select	NP_000531.2:p.Gln3485Ter
ENST00000359596.8:c.10453C>T MANE Select	ENSP00000352608.2:p.Gln3485Ter
NM_000540.2:c.10453C>T , LRG_766t1:c.10453C>T	NP_000531.2:p.Gln3485Ter
NM_001042723.1:c.10440+618C>T	NP_001036188.1:n.10440+618C>T
NM_001042723.2:c.10440+618C>T	NP_001036188.1:n.10440+618C>T
ENST00000355481.8:c.10440+618C>T	ENSP00000347667.3:n.10440+618C>T
ENST00000359596.7:c.10453C>T	ENSP00000352608.2:p.Gln3485Ter
ENST00000360985.7:c.10437+618C>T	ENSP00000354254.4:n.10437+618C>T
ENST00000594335.5:c.3842+618C>T
ENST00000599547.5:c.1260C>T
ENST00000599547.6:c.10392C>T	ENSP00000471601.2:n.10392C>T
XM_006723317.1:c.10453C>T	XP_006723380.1:p.Gln3485Ter
XM_006723317.2:c.10453C>T	XP_006723380.1:p.Gln3485Ter
XM_006723319.1:c.10440+618C>T	XP_006723382.1:n.10440+618C>T
XM_006723319.2:c.10440+618C>T	XP_006723382.1:n.10440+618C>T
XM_011527204.1:c.10450C>T	XP_011525506.1:p.Gln3484Ter
XM_011527205.1:c.10453C>T	XP_011525507.1:p.Gln3485Ter
XM_011527205.2:c.10453C>T	XP_011525507.1:p.Gln3485Ter