Canonical Allele Identifier: CA405686855

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070638G>A (hg19) ; chr19:g.38579998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579998G>A , CM000681.2:g.38579998G>A	GRCh38
NC_000019.9:g.39070638G>A , CM000681.1:g.39070638G>A	GRCh37
NC_000019.8:g.43762478G>A	NCBI36
NG_008866.1:g.151299G>A , LRG_766:g.151299G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1317G>A
ENST00000688602.1:c.2714G>A
ENST00000689936.1:c.2686G>A
ENST00000359596.8:c.14381G>A MANE Select	ENSP00000352608.2:p.Gly4794Asp
ENST00000355481.8:c.14366G>A	ENSP00000347667.3:p.Gly4789Asp
ENST00000359596.7:c.14381G>A	ENSP00000352608.2:p.Gly4794Asp
ENST00000360985.7:c.14363G>A	ENSP00000354254.4:p.Gly4788Asp
NM_000540.2:c.14381G>A , LRG_766t1:c.14381G>A	NP_000531.2:p.Gly4794Asp
NM_001042723.1:c.14366G>A	NP_001036188.1:p.Gly4789Asp
XM_006723317.1:c.14363G>A	XP_006723380.1:p.Gly4788Asp
XM_006723319.1:c.14348G>A	XP_006723382.1:p.Gly4783Asp
XM_011527204.1:c.14378G>A	XP_011525506.1:p.Gly4793Asp
XM_011527205.1:c.14294G>A	XP_011525507.1:p.Gly4765Asp
XM_006723317.2:c.14363G>A	XP_006723380.1:p.Gly4788Asp
XM_006723319.2:c.14348G>A	XP_006723382.1:p.Gly4783Asp
XM_011527205.2:c.14294G>A	XP_011525507.1:p.Gly4765Asp
NM_000540.3:c.14381G>A MANE Select	NP_000531.2:p.Gly4794Asp
NM_001042723.2:c.14366G>A	NP_001036188.1:p.Gly4789Asp