Canonical Allele Identifier: CA405661612

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034178A>T (hg19) ; chr19:g.38543538A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543538A>T , CM000681.2:g.38543538A>T	GRCh38
NC_000019.9:g.39034178A>T , CM000681.1:g.39034178A>T	GRCh37
NC_000019.8:g.43726018A>T	NCBI36
NG_008866.1:g.114839A>T , LRG_766:g.114839A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.195A>T
ENST00000689936.1:c.177A>T
ENST00000359596.8:c.11785A>T MANE Select	ENSP00000352608.2:p.Ile3929Phe
ENST00000355481.8:c.11770A>T	ENSP00000347667.3:p.Ile3924Phe
ENST00000359596.7:c.11785A>T	ENSP00000352608.2:p.Ile3929Phe
ENST00000360985.7:c.11767A>T	ENSP00000354254.4:p.Ile3923Phe
ENST00000593322.1:c.394A>T
ENST00000594335.5:c.5154A>T
NM_000540.2:c.11785A>T , LRG_766t1:c.11785A>T	NP_000531.2:p.Ile3929Phe
NM_001042723.1:c.11770A>T	NP_001036188.1:p.Ile3924Phe
XM_006723317.1:c.11767A>T	XP_006723380.1:p.Ile3923Phe
XM_006723319.1:c.11752A>T	XP_006723382.1:p.Ile3918Phe
XM_011527204.1:c.11782A>T	XP_011525506.1:p.Ile3928Phe
XM_011527205.1:c.11785A>T	XP_011525507.1:p.Ile3929Phe
XM_006723317.2:c.11767A>T	XP_006723380.1:p.Ile3923Phe
XM_006723319.2:c.11752A>T	XP_006723382.1:p.Ile3918Phe
XM_011527205.2:c.11785A>T	XP_011525507.1:p.Ile3929Phe
NM_000540.3:c.11785A>T MANE Select	NP_000531.2:p.Ile3929Phe
NM_001042723.2:c.11770A>T	NP_001036188.1:p.Ile3924Phe