Canonical Allele Identifier: CA405662157

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.38983194G>T (hg19) ; chr19:g.38492554G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38492554G>T , CM000681.2:g.38492554G>T	GRCh38
NC_000019.9:g.38983194G>T , CM000681.1:g.38983194G>T	GRCh37
NC_000019.8:g.43675034G>T	NCBI36
NG_008866.1:g.63855G>T , LRG_766:g.63855G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6192G>T	ENSP00000471601.2:p.Met2064Ile
ENST00000359596.8:c.6192G>T MANE Select	ENSP00000352608.2:p.Met2064Ile
ENST00000355481.8:c.6192G>T	ENSP00000347667.3:p.Met2064Ile
ENST00000359596.7:c.6192G>T	ENSP00000352608.2:p.Met2064Ile
ENST00000360985.7:c.6189G>T	ENSP00000354254.4:p.Met2063Ile
NM_000540.2:c.6192G>T , LRG_766t1:c.6192G>T	NP_000531.2:p.Met2064Ile
NM_001042723.1:c.6192G>T	NP_001036188.1:p.Met2064Ile
XM_006723317.1:c.6192G>T	XP_006723380.1:p.Met2064Ile
XM_006723319.1:c.6192G>T	XP_006723382.1:p.Met2064Ile
XM_011527204.1:c.6189G>T	XP_011525506.1:p.Met2063Ile
XM_011527205.1:c.6192G>T	XP_011525507.1:p.Met2064Ile
XM_006723317.2:c.6192G>T	XP_006723380.1:p.Met2064Ile
XM_006723319.2:c.6192G>T	XP_006723382.1:p.Met2064Ile
XM_011527205.2:c.6192G>T	XP_011525507.1:p.Met2064Ile
XR_001753735.1:n.6275G>T
NM_000540.3:c.6192G>T MANE Select	NP_000531.2:p.Met2064Ile
NM_001042723.2:c.6192G>T	NP_001036188.1:p.Met2064Ile