Canonical Allele Identifier: CA405661191

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034017G>T (hg19) ; chr19:g.38543377G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543377G>T , CM000681.2:g.38543377G>T	GRCh38
NC_000019.9:g.39034017G>T , CM000681.1:g.39034017G>T	GRCh37
NC_000019.8:g.43725857G>T	NCBI36
NG_008866.1:g.114678G>T , LRG_766:g.114678G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.130G>T
ENST00000689936.1:c.112G>T
ENST00000359596.8:c.11720G>T MANE Select	ENSP00000352608.2:p.Gly3907Val
ENST00000355481.8:c.11705G>T	ENSP00000347667.3:p.Gly3902Val
ENST00000359596.7:c.11720G>T	ENSP00000352608.2:p.Gly3907Val
ENST00000360985.7:c.11702G>T	ENSP00000354254.4:p.Gly3901Val
ENST00000593322.1:c.329G>T
ENST00000594335.5:c.5089G>T
NM_000540.2:c.11720G>T , LRG_766t1:c.11720G>T	NP_000531.2:p.Gly3907Val
NM_001042723.1:c.11705G>T	NP_001036188.1:p.Gly3902Val
XM_006723317.1:c.11702G>T	XP_006723380.1:p.Gly3901Val
XM_006723319.1:c.11687G>T	XP_006723382.1:p.Gly3896Val
XM_011527204.1:c.11717G>T	XP_011525506.1:p.Gly3906Val
XM_011527205.1:c.11720G>T	XP_011525507.1:p.Gly3907Val
XM_006723317.2:c.11702G>T	XP_006723380.1:p.Gly3901Val
XM_006723319.2:c.11687G>T	XP_006723382.1:p.Gly3896Val
XM_011527205.2:c.11720G>T	XP_011525507.1:p.Gly3907Val
NM_000540.3:c.11720G>T MANE Select	NP_000531.2:p.Gly3907Val
NM_001042723.2:c.11705G>T	NP_001036188.1:p.Gly3902Val