Canonical Allele Identifier: CA405681509

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062890A>C (hg19) ; chr19:g.38572250A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572250A>C , CM000681.2:g.38572250A>C	GRCh38
NC_000019.9:g.39062890A>C , CM000681.1:g.39062890A>C	GRCh37
NC_000019.8:g.43754730A>C	NCBI36
NG_008866.1:g.143551A>C , LRG_766:g.143551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.914A>C
ENST00000688602.1:c.2311A>C
ENST00000689936.1:c.2283A>C
ENST00000359596.8:c.13978A>C MANE Select	ENSP00000352608.2:p.Ile4660Leu
ENST00000355481.8:c.13963A>C	ENSP00000347667.3:p.Ile4655Leu
ENST00000359596.7:c.13978A>C	ENSP00000352608.2:p.Ile4660Leu
ENST00000360985.7:c.13960A>C	ENSP00000354254.4:p.Ile4654Leu
NM_000540.2:c.13978A>C , LRG_766t1:c.13978A>C	NP_000531.2:p.Ile4660Leu
NM_001042723.1:c.13963A>C	NP_001036188.1:p.Ile4655Leu
XM_006723317.1:c.13960A>C	XP_006723380.1:p.Ile4654Leu
XM_006723319.1:c.13945A>C	XP_006723382.1:p.Ile4649Leu
XM_011527204.1:c.13975A>C	XP_011525506.1:p.Ile4659Leu
XM_011527205.1:c.13891A>C	XP_011525507.1:p.Ile4631Leu
XM_006723317.2:c.13960A>C	XP_006723380.1:p.Ile4654Leu
XM_006723319.2:c.13945A>C	XP_006723382.1:p.Ile4649Leu
XM_011527205.2:c.13891A>C	XP_011525507.1:p.Ile4631Leu
NM_000540.3:c.13978A>C MANE Select	NP_000531.2:p.Ile4660Leu
NM_001042723.2:c.13963A>C	NP_001036188.1:p.Ile4655Leu