Canonical Allele Identifier: CA060758

Gene: RYR1

Linked Data

• dbSNP Id: rs751541036
• ExAC: 19:39063819 G / T
• gnomAD v2: 19-39063819-G-T
• gnomAD v3: 19-38573179-G-T
• gnomAD v4: 19-38573179-G-T
• MyVariant Identifiers: chr19:g.39063819G>T (hg19) ; chr19:g.38573179G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573179G>T , CM000681.2:g.38573179G>T	GRCh38
NC_000019.9:g.39063819G>T , CM000681.1:g.39063819G>T	GRCh37
NC_000019.8:g.43755659G>T	NCBI36
NG_008866.1:g.144480G>T , LRG_766:g.144480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.937G>T
ENST00000688602.1:c.2334G>T
ENST00000689936.1:c.2306G>T
ENST00000359596.8:c.14001G>T MANE Select	ENSP00000352608.2:p.Val4667=
ENST00000355481.8:c.13986G>T	ENSP00000347667.3:p.Val4662=
ENST00000359596.7:c.14001G>T	ENSP00000352608.2:p.Val4667=
ENST00000360985.7:c.13983G>T	ENSP00000354254.4:p.Val4661=
NM_000540.2:c.14001G>T , LRG_766t1:c.14001G>T	NP_000531.2:p.Val4667=
NM_001042723.1:c.13986G>T	NP_001036188.1:p.Val4662=
XM_006723317.1:c.13983G>T	XP_006723380.1:p.Val4661=
XM_006723319.1:c.13968G>T	XP_006723382.1:p.Val4656=
XM_011527204.1:c.13998G>T	XP_011525506.1:p.Val4666=
XM_011527205.1:c.13914G>T	XP_011525507.1:p.Val4638=
XM_006723317.2:c.13983G>T	XP_006723380.1:p.Val4661=
XM_006723319.2:c.13968G>T	XP_006723382.1:p.Val4656=
XM_011527205.2:c.13914G>T	XP_011525507.1:p.Val4638=
NM_000540.3:c.14001G>T MANE Select	NP_000531.2:p.Val4667=
NM_001042723.2:c.13986G>T	NP_001036188.1:p.Val4662=