Canonical Allele Identifier: CA405432641

Gene: SYNE4

Linked Data

• dbSNP Id: rs1599677487
• gnomAD v4: 19-36006600-A-G
• MyVariant Identifiers: chr19:g.36497502A>G (hg19) ; chr19:g.36006600A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006600A>G , CM000681.2:g.36006600A>G	GRCh38
NC_000019.9:g.36497502A>G , CM000681.1:g.36497502A>G	GRCh37
NC_000019.8:g.41189342A>G	NCBI36
NG_042831.1:g.7194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.690T>C MANE Select	ENSP00000316130.3:p.Gly230=
ENST00000397428.8:c.67-1163T>C
ENST00000465425.2:n.802T>C
ENST00000324444.7:c.690T>C	ENSP00000316130.3:p.Gly230=
ENST00000340477.9:c.351T>C	ENSP00000343152.5:p.Gly117=
ENST00000397428.7:c.40-1163T>C	ENSP00000380572.3:n.40-1163T>C
ENST00000465425.1:n.802T>C
ENST00000490730.1:c.688+2T>C	ENSP00000422716.1:n.688+2T>C
ENST00000503121.5:c.242+1617T>C
ENST00000505054.2:n.395-1163T>C
NM_001039876.1:c.690T>C	NP_001034965.1:p.Gly230=
NM_001039876.2:c.690T>C	NP_001034965.1:p.Gly230=
NM_001297735.1:c.351T>C	NP_001284664.1:p.Gly117=
NM_001297735.2:c.351T>C	NP_001284664.1:p.Gly117=
XM_005258598.2:c.688+2T>C	XP_005258655.1:n.688+2T>C
XM_005258601.2:c.618+150T>C	XP_005258658.1:n.618+150T>C
XM_005258604.3:c.688+2T>C	XP_005258661.1:n.688+2T>C
NM_001039876.3:c.690T>C MANE Select	NP_001034965.1:p.Gly230=
NM_001297735.3:c.351T>C	NP_001284664.1:p.Gly117=