Canonical Allele Identifier: CA507317046

Gene: SYNE4

Linked Data

• gnomAD v4: 19-36006486-T-C
• MyVariant Identifiers: chr19:g.36497388T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006486T>C , CM000681.2:g.36006486T>C	GRCh38
NC_000019.9:g.36497388T>C , CM000681.1:g.36497388T>C	GRCh37
NC_000019.8:g.41189228T>C	NCBI36
NG_042831.1:g.7308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.804A>G MANE Select	ENSP00000316130.3:p.Thr268=
ENST00000397428.8:c.67-1049A>G
ENST00000465425.2:n.916A>G
ENST00000324444.7:c.804A>G	ENSP00000316130.3:p.Thr268=
ENST00000340477.9:c.465A>G	ENSP00000343152.5:p.Thr155=
ENST00000397428.7:c.40-1049A>G	ENSP00000380572.3:n.40-1049A>G
ENST00000465425.1:n.916A>G
ENST00000490730.1:c.688+116A>G	ENSP00000422716.1:n.688+116A>G
ENST00000503121.5:c.242+1731A>G
ENST00000505054.2:n.395-1049A>G
NM_001039876.1:c.804A>G	NP_001034965.1:p.Thr268=
NM_001039876.2:c.804A>G	NP_001034965.1:p.Thr268=
NM_001297735.1:c.465A>G	NP_001284664.1:p.Thr155=
NM_001297735.2:c.465A>G	NP_001284664.1:p.Thr155=
XM_005258598.2:c.688+116A>G	XP_005258655.1:n.688+116A>G
XM_005258601.2:c.618+264A>G	XP_005258658.1:n.618+264A>G
XM_005258604.3:c.688+116A>G	XP_005258661.1:n.688+116A>G
NM_001039876.3:c.804A>G MANE Select	NP_001034965.1:p.Thr268=
NM_001297735.3:c.465A>G	NP_001284664.1:p.Thr155=