Canonical Allele Identifier: CA405693007

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076780C>A (hg19) ; chr19:g.38586140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586140C>A , CM000681.2:g.38586140C>A	GRCh38
NC_000019.9:g.39076780C>A , CM000681.1:g.39076780C>A	GRCh37
NC_000019.8:g.43768620C>A	NCBI36
NG_008866.1:g.157441C>A , LRG_766:g.157441C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1854C>A
ENST00000688602.1:c.3251C>A
ENST00000689936.1:c.3223C>A
ENST00000692547.1:n.311C>A
ENST00000359596.8:c.14918C>A MANE Select	ENSP00000352608.2:p.Pro4973Gln
ENST00000355481.8:c.14903C>A	ENSP00000347667.3:p.Pro4968Gln
ENST00000359596.7:c.14918C>A	ENSP00000352608.2:p.Pro4973Gln
ENST00000360985.7:c.14900C>A	ENSP00000354254.4:p.Pro4967Gln
NM_000540.2:c.14918C>A , LRG_766t1:c.14918C>A	NP_000531.2:p.Pro4973Gln
NM_001042723.1:c.14903C>A	NP_001036188.1:p.Pro4968Gln
XM_006723317.1:c.14900C>A	XP_006723380.1:p.Pro4967Gln
XM_006723319.1:c.14885C>A	XP_006723382.1:p.Pro4962Gln
XM_011527204.1:c.14915C>A	XP_011525506.1:p.Pro4972Gln
XM_011527205.1:c.14831C>A	XP_011525507.1:p.Pro4944Gln
XM_006723317.2:c.14900C>A	XP_006723380.1:p.Pro4967Gln
XM_006723319.2:c.14885C>A	XP_006723382.1:p.Pro4962Gln
XM_011527205.2:c.14831C>A	XP_011525507.1:p.Pro4944Gln
NM_000540.3:c.14918C>A MANE Select	NP_000531.2:p.Pro4973Gln
NM_001042723.2:c.14903C>A	NP_001036188.1:p.Pro4968Gln