Canonical Allele Identifier: CA9393869

Gene: SYNE4

Linked Data

• dbSNP Id: rs781687396
• ExAC: 19:36497506 G / A
• gnomAD v2: 19-36497506-G-A
• gnomAD v4: 19-36006604-G-A
• MyVariant Identifiers: chr19:g.36497506G>A (hg19) ; chr19:g.36006604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006604G>A , CM000681.2:g.36006604G>A	GRCh38
NC_000019.9:g.36497506G>A , CM000681.1:g.36497506G>A	GRCh37
NC_000019.8:g.41189346G>A	NCBI36
NG_042831.1:g.7190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.686C>T MANE Select	ENSP00000316130.3:p.Pro229Leu
ENST00000397428.8:c.67-1167C>T
ENST00000465425.2:n.798C>T
ENST00000324444.7:c.686C>T	ENSP00000316130.3:p.Pro229Leu
ENST00000340477.9:c.347C>T	ENSP00000343152.5:p.Pro116Leu
ENST00000397428.7:c.40-1167C>T	ENSP00000380572.3:n.40-1167C>T
ENST00000465425.1:n.798C>T
ENST00000490730.1:c.686C>T	ENSP00000422716.1:p.Pro229Leu
ENST00000503121.5:c.242+1613C>T
ENST00000505054.2:n.395-1167C>T
NM_001039876.1:c.686C>T	NP_001034965.1:p.Pro229Leu
NM_001039876.2:c.686C>T	NP_001034965.1:p.Pro229Leu
NM_001297735.1:c.347C>T	NP_001284664.1:p.Pro116Leu
NM_001297735.2:c.347C>T	NP_001284664.1:p.Pro116Leu
XM_005258598.2:c.686C>T	XP_005258655.1:p.Pro229Leu
XM_005258601.2:c.618+146C>T	XP_005258658.1:n.618+146C>T
XM_005258604.3:c.686C>T	XP_005258661.1:p.Pro229Leu
NM_001039876.3:c.686C>T MANE Select	NP_001034965.1:p.Pro229Leu
NM_001297735.3:c.347C>T	NP_001284664.1:p.Pro116Leu