Canonical Allele Identifier: CA1736132

Gene: SUCLG1

Linked Data

• ClinVar Variation Id: 337154
• ClinVar RCV Id: RCV000319823 ; RCV000374449 ; RCV000997181
• dbSNP Id: rs146834097
• ExAC: 2:84652594 C / T
• gnomAD v2: 2-84652594-C-T
• gnomAD v3: 2-84425470-C-T
• gnomAD v4: 2-84425470-C-T
• MyVariant Identifiers: chr2:g.84652594C>T (hg19) ; chr2:g.84425470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84425470C>T , CM000664.2:g.84425470C>T	GRCh38
NC_000002.11:g.84652594C>T , CM000664.1:g.84652594C>T	GRCh37
NC_000002.10:g.84506105C>T	NCBI36
NG_016755.1:g.38993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.7:c.959G>A MANE Select	ENSP00000377446.2:p.Ser320Asn
ENST00000651342.1:c.*399G>A	ENSP00000498471.1:n.*399G>A
ENST00000393868.6:c.959G>A	ENSP00000377446.2:p.Ser320Asn
ENST00000484365.1:n.1467G>A
ENST00000487809.1:n.706G>A
ENST00000491123.5:n.805G>A
NM_003849.3:c.959G>A	NP_003840.2:p.Ser320Asn
NM_003849.4:c.959G>A MANE Select	NP_003840.2:p.Ser320Asn