Canonical Allele Identifier: CA507355397

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39055637G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38564997G>C , CM000681.2:g.38564997G>C	GRCh38
NC_000019.9:g.39055637G>C , CM000681.1:g.39055637G>C	GRCh37
NC_000019.8:g.43747477G>C	NCBI36
NG_008866.1:g.136298G>C , LRG_766:g.136298G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1073G>C
ENST00000689936.1:c.1055G>C
ENST00000359596.8:c.12663G>C MANE Select	ENSP00000352608.2:p.Val4221=
ENST00000355481.8:c.12648G>C	ENSP00000347667.3:p.Val4216=
ENST00000359596.7:c.12663G>C	ENSP00000352608.2:p.Val4221=
ENST00000360985.7:c.12645G>C	ENSP00000354254.4:p.Val4215=
ENST00000594335.5:c.6032G>C
NM_000540.2:c.12663G>C , LRG_766t1:c.12663G>C	NP_000531.2:p.Val4221=
NM_001042723.1:c.12648G>C	NP_001036188.1:p.Val4216=
XM_006723317.1:c.12645G>C	XP_006723380.1:p.Val4215=
XM_006723319.1:c.12630G>C	XP_006723382.1:p.Val4210=
XM_011527204.1:c.12660G>C	XP_011525506.1:p.Val4220=
XM_011527205.1:c.12663G>C	XP_011525507.1:p.Val4221=
XM_006723317.2:c.12645G>C	XP_006723380.1:p.Val4215=
XM_006723319.2:c.12630G>C	XP_006723382.1:p.Val4210=
XM_011527205.2:c.12663G>C	XP_011525507.1:p.Val4221=
NM_000540.3:c.12663G>C MANE Select	NP_000531.2:p.Val4221=
NM_001042723.2:c.12648G>C	NP_001036188.1:p.Val4216=