Canonical Allele Identifier: CA507355749

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39055967A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565327A>C , CM000681.2:g.38565327A>C	GRCh38
NC_000019.9:g.39055967A>C , CM000681.1:g.39055967A>C	GRCh37
NC_000019.8:g.43747807A>C	NCBI36
NG_008866.1:g.136628A>C , LRG_766:g.136628A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1403A>C
ENST00000689936.1:c.1385A>C
ENST00000359596.8:c.12993A>C MANE Select	ENSP00000352608.2:p.Ala4331=
ENST00000355481.8:c.12978A>C	ENSP00000347667.3:p.Ala4326=
ENST00000359596.7:c.12993A>C	ENSP00000352608.2:p.Ala4331=
ENST00000360985.7:c.12975A>C	ENSP00000354254.4:p.Ala4325=
NM_000540.2:c.12993A>C , LRG_766t1:c.12993A>C	NP_000531.2:p.Ala4331=
NM_001042723.1:c.12978A>C	NP_001036188.1:p.Ala4326=
XM_006723317.1:c.12975A>C	XP_006723380.1:p.Ala4325=
XM_006723319.1:c.12960A>C	XP_006723382.1:p.Ala4320=
XM_011527204.1:c.12990A>C	XP_011525506.1:p.Ala4330=
XM_011527205.1:c.12993A>C	XP_011525507.1:p.Ala4331=
XM_006723317.2:c.12975A>C	XP_006723380.1:p.Ala4325=
XM_006723319.2:c.12960A>C	XP_006723382.1:p.Ala4320=
XM_011527205.2:c.12993A>C	XP_011525507.1:p.Ala4331=
NM_000540.3:c.12993A>C MANE Select	NP_000531.2:p.Ala4331=
NM_001042723.2:c.12978A>C	NP_001036188.1:p.Ala4326=