Canonical Allele Identifier: CA405691292

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39008004G>T (hg19) ; chr19:g.38517364G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517364G>T , CM000681.2:g.38517364G>T	GRCh38
NC_000019.9:g.39008004G>T , CM000681.1:g.39008004G>T	GRCh37
NC_000019.8:g.43699844G>T	NCBI36
NG_008866.1:g.88665G>T , LRG_766:g.88665G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9630G>T	ENSP00000471601.2:n.9630G>T
ENST00000359596.8:c.9691G>T MANE Select	ENSP00000352608.2:p.Gly3231Trp
ENST00000355481.8:c.9691G>T	ENSP00000347667.3:p.Gly3231Trp
ENST00000359596.7:c.9691G>T	ENSP00000352608.2:p.Gly3231Trp
ENST00000360985.7:c.9688G>T	ENSP00000354254.4:p.Gly3230Trp
ENST00000594335.5:c.3093G>T
ENST00000599547.5:c.498G>T
NM_000540.2:c.9691G>T , LRG_766t1:c.9691G>T	NP_000531.2:p.Gly3231Trp
NM_001042723.1:c.9691G>T	NP_001036188.1:p.Gly3231Trp
XM_006723317.1:c.9691G>T	XP_006723380.1:p.Gly3231Trp
XM_006723319.1:c.9691G>T	XP_006723382.1:p.Gly3231Trp
XM_011527204.1:c.9688G>T	XP_011525506.1:p.Gly3230Trp
XM_011527205.1:c.9691G>T	XP_011525507.1:p.Gly3231Trp
XM_006723317.2:c.9691G>T	XP_006723380.1:p.Gly3231Trp
XM_006723319.2:c.9691G>T	XP_006723382.1:p.Gly3231Trp
XM_011527205.2:c.9691G>T	XP_011525507.1:p.Gly3231Trp
XR_001753735.1:n.9724G>T
NM_000540.3:c.9691G>T MANE Select	NP_000531.2:p.Gly3231Trp
NM_001042723.2:c.9691G>T	NP_001036188.1:p.Gly3231Trp