Canonical Allele Identifier: CA405686976

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070663G>C (hg19) ; chr19:g.38580023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580023G>C , CM000681.2:g.38580023G>C	GRCh38
NC_000019.9:g.39070663G>C , CM000681.1:g.39070663G>C	GRCh37
NC_000019.8:g.43762503G>C	NCBI36
NG_008866.1:g.151324G>C , LRG_766:g.151324G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1342G>C
ENST00000688602.1:c.2739G>C
ENST00000689936.1:c.2711G>C
ENST00000359596.8:c.14406G>C MANE Select	ENSP00000352608.2:p.Leu4802Phe
ENST00000355481.8:c.14391G>C	ENSP00000347667.3:p.Leu4797Phe
ENST00000359596.7:c.14406G>C	ENSP00000352608.2:p.Leu4802Phe
ENST00000360985.7:c.14388G>C	ENSP00000354254.4:p.Leu4796Phe
NM_000540.2:c.14406G>C , LRG_766t1:c.14406G>C	NP_000531.2:p.Leu4802Phe
NM_001042723.1:c.14391G>C	NP_001036188.1:p.Leu4797Phe
XM_006723317.1:c.14388G>C	XP_006723380.1:p.Leu4796Phe
XM_006723319.1:c.14373G>C	XP_006723382.1:p.Leu4791Phe
XM_011527204.1:c.14403G>C	XP_011525506.1:p.Leu4801Phe
XM_011527205.1:c.14319G>C	XP_011525507.1:p.Leu4773Phe
XM_006723317.2:c.14388G>C	XP_006723380.1:p.Leu4796Phe
XM_006723319.2:c.14373G>C	XP_006723382.1:p.Leu4791Phe
XM_011527205.2:c.14319G>C	XP_011525507.1:p.Leu4773Phe
NM_000540.3:c.14406G>C MANE Select	NP_000531.2:p.Leu4802Phe
NM_001042723.2:c.14391G>C	NP_001036188.1:p.Leu4797Phe