Canonical Allele Identifier: CA391566843

Gene: RYR3

Linked Data

• gnomAD v4: 15-33660394-G-T
• MyVariant Identifiers: chr15:g.33952595G>T (hg19) ; chr15:g.33660394G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.33660394G>T , CM000677.2:g.33660394G>T	GRCh38
NC_000015.9:g.33952595G>T , CM000677.1:g.33952595G>T	GRCh37
NC_000015.8:g.31739887G>T	NCBI36
NG_047076.1:g.354612G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634891.2:c.4593G>T MANE Select	ENSP00000489262.1:p.Met1531Ile
ENST00000389232.9:c.4593G>T	ENSP00000373884.5:p.Met1531Ile
ENST00000415757.7:c.4593G>T	ENSP00000399610.3:p.Met1531Ile
ENST00000622037.1:c.4593G>T	ENSP00000483166.1:p.Met1531Ile
ENST00000634418.1:c.4593G>T	ENSP00000489529.1:p.Met1531Ile
ENST00000634891.1:c.4593G>T	ENSP00000489262.1:p.Met1531Ile
NM_001036.4:c.4593G>T	NP_001027.3:p.Met1531Ile
NM_001243996.2:c.4593G>T	NP_001230925.1:p.Met1531Ile
XM_011521880.1:c.4593G>T	XP_011520182.1:p.Met1531Ile
XM_011521880.2:c.4593G>T	XP_011520182.1:p.Met1531Ile
XM_017022468.1:c.4593G>T	XP_016877957.1:p.Met1531Ile
XM_017022469.1:c.4593G>T	XP_016877958.1:p.Met1531Ile
XM_017022470.2:c.4590G>T	XP_016877959.1:p.Met1530Ile
XM_017022471.1:c.4590G>T	XP_016877960.1:p.Met1530Ile
XM_017022472.1:c.4593G>T	XP_016877961.1:p.Met1531Ile
XM_017022473.1:c.4593G>T	XP_016877962.1:p.Met1531Ile
XM_017022474.1:c.4572G>T	XP_016877963.1:p.Met1524Ile
XM_017022475.1:c.4593G>T	XP_016877964.1:p.Met1531Ile
XM_017022476.1:c.4485G>T	XP_016877965.1:p.Met1495Ile
XM_017022477.1:c.4593G>T	XP_016877966.1:p.Met1531Ile
XM_024450015.1:c.4590G>T	XP_024305783.1:p.Met1530Ile
XM_024450016.1:c.4590G>T	XP_024305784.1:p.Met1530Ile
XR_001751369.1:n.4865G>T
XR_001751370.1:n.4865G>T
XR_001751371.2:n.4865G>T
NM_001036.5:c.4593G>T	NP_001027.3:p.Met1531Ile
NM_001243996.3:c.4593G>T	NP_001230925.1:p.Met1531Ile
NM_001036.6:c.4593G>T MANE Select	NP_001027.3:p.Met1531Ile
NM_001243996.4:c.4593G>T	NP_001230925.1:p.Met1531Ile