Canonical Allele Identifier: CA405690738

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39075679G>C (hg19) ; chr19:g.38585039G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585039G>C , CM000681.2:g.38585039G>C	GRCh38
NC_000019.9:g.39075679G>C , CM000681.1:g.39075679G>C	GRCh37
NC_000019.8:g.43767519G>C	NCBI36
NG_008866.1:g.156340G>C , LRG_766:g.156340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1679G>C
ENST00000688602.1:c.3076G>C
ENST00000689936.1:c.3048G>C
ENST00000692547.1:n.136G>C
ENST00000359596.8:c.14743G>C MANE Select	ENSP00000352608.2:p.Val4915Leu
ENST00000355481.8:c.14728G>C	ENSP00000347667.3:p.Val4910Leu
ENST00000359596.7:c.14743G>C	ENSP00000352608.2:p.Val4915Leu
ENST00000360985.7:c.14725G>C	ENSP00000354254.4:p.Val4909Leu
NM_000540.2:c.14743G>C , LRG_766t1:c.14743G>C	NP_000531.2:p.Val4915Leu
NM_001042723.1:c.14728G>C	NP_001036188.1:p.Val4910Leu
XM_006723317.1:c.14725G>C	XP_006723380.1:p.Val4909Leu
XM_006723319.1:c.14710G>C	XP_006723382.1:p.Val4904Leu
XM_011527204.1:c.14740G>C	XP_011525506.1:p.Val4914Leu
XM_011527205.1:c.14656G>C	XP_011525507.1:p.Val4886Leu
XM_006723317.2:c.14725G>C	XP_006723380.1:p.Val4909Leu
XM_006723319.2:c.14710G>C	XP_006723382.1:p.Val4904Leu
XM_011527205.2:c.14656G>C	XP_011525507.1:p.Val4886Leu
NM_000540.3:c.14743G>C MANE Select	NP_000531.2:p.Val4915Leu
NM_001042723.2:c.14728G>C	NP_001036188.1:p.Val4910Leu