Canonical Allele Identifier: CA405432688

Gene: SYNE4

Linked Data

• gnomAD v4: 19-36006611-G-T
• MyVariant Identifiers: chr19:g.36497513G>T (hg19) ; chr19:g.36006611G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006611G>T , CM000681.2:g.36006611G>T	GRCh38
NC_000019.9:g.36497513G>T , CM000681.1:g.36497513G>T	GRCh37
NC_000019.8:g.41189353G>T	NCBI36
NG_042831.1:g.7183C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.679C>A MANE Select	ENSP00000316130.3:p.Pro227Thr
ENST00000397428.8:c.67-1174C>A
ENST00000465425.2:n.791C>A
ENST00000324444.7:c.679C>A	ENSP00000316130.3:p.Pro227Thr
ENST00000340477.9:c.340C>A	ENSP00000343152.5:p.Pro114Thr
ENST00000397428.7:c.40-1174C>A	ENSP00000380572.3:n.40-1174C>A
ENST00000465425.1:n.791C>A
ENST00000490730.1:c.679C>A	ENSP00000422716.1:p.Pro227Thr
ENST00000503121.5:c.242+1606C>A
ENST00000505054.2:n.395-1174C>A
NM_001039876.1:c.679C>A	NP_001034965.1:p.Pro227Thr
NM_001039876.2:c.679C>A	NP_001034965.1:p.Pro227Thr
NM_001297735.1:c.340C>A	NP_001284664.1:p.Pro114Thr
NM_001297735.2:c.340C>A	NP_001284664.1:p.Pro114Thr
XM_005258598.2:c.679C>A	XP_005258655.1:p.Pro227Thr
XM_005258601.2:c.618+139C>A	XP_005258658.1:n.618+139C>A
XM_005258604.3:c.679C>A	XP_005258661.1:p.Pro227Thr
NM_001039876.3:c.679C>A MANE Select	NP_001034965.1:p.Pro227Thr
NM_001297735.3:c.340C>A	NP_001284664.1:p.Pro114Thr