Canonical Allele Identifier: CA507355988

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062736C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572096C>A , CM000681.2:g.38572096C>A	GRCh38
NC_000019.9:g.39062736C>A , CM000681.1:g.39062736C>A	GRCh37
NC_000019.8:g.43754576C>A	NCBI36
NG_008866.1:g.143397C>A , LRG_766:g.143397C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.760C>A
ENST00000688602.1:c.2157C>A
ENST00000689936.1:c.2129C>A
ENST00000359596.8:c.13824C>A MANE Select	ENSP00000352608.2:p.Gly4608=
ENST00000355481.8:c.13809C>A	ENSP00000347667.3:p.Gly4603=
ENST00000359596.7:c.13824C>A	ENSP00000352608.2:p.Gly4608=
ENST00000360985.7:c.13806C>A	ENSP00000354254.4:p.Gly4602=
ENST00000593677.1:c.284C>A
NM_000540.2:c.13824C>A , LRG_766t1:c.13824C>A	NP_000531.2:p.Gly4608=
NM_001042723.1:c.13809C>A	NP_001036188.1:p.Gly4603=
XM_006723317.1:c.13806C>A	XP_006723380.1:p.Gly4602=
XM_006723319.1:c.13791C>A	XP_006723382.1:p.Gly4597=
XM_011527204.1:c.13821C>A	XP_011525506.1:p.Gly4607=
XM_011527205.1:c.13737C>A	XP_011525507.1:p.Gly4579=
XM_006723317.2:c.13806C>A	XP_006723380.1:p.Gly4602=
XM_006723319.2:c.13791C>A	XP_006723382.1:p.Gly4597=
XM_011527205.2:c.13737C>A	XP_011525507.1:p.Gly4579=
NM_000540.3:c.13824C>A MANE Select	NP_000531.2:p.Gly4608=
NM_001042723.2:c.13809C>A	NP_001036188.1:p.Gly4603=