Canonical Allele Identifier: CA274355

Gene: CBS

Linked Data

• ClinVar Variation Id: 189081
• ClinVar RCV Id: RCV000169487 ; RCV002228614
• dbSNP Id: rs786204679
• MyVariant Identifiers: chr21:g.43058833C>T (hg38)
• PubMed: PMID:9232191 ; PMID:24211323

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43058833C>T , CM000683.2:g.43058833C>T	GRCh38
NG_008938.1:g.22098G>A , LRG_777:g.22098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.1358+1G>A MANE Select	ENSP00000381231.4:n.1358+1G>A
ENST00000352178.9:c.1358+1G>A	ENSP00000344460.5:n.1358+1G>A
ENST00000359624.7:c.1358+1G>A	ENSP00000352643.3:n.1358+1G>A
ENST00000398158.5:c.1358+1G>A	ENSP00000381225.1:n.1358+1G>A
ENST00000398165.7:c.1358+1G>A	ENSP00000381231.3:n.1358+1G>A
ENST00000430013.1:c.319+1G>A
ENST00000451248.5:c.108+1G>A
ENST00000458223.5:c.121+1G>A
ENST00000461686.5:n.1669+1G>A
ENST00000462349.5:n.649+1G>A
ENST00000491776.1:n.293+1G>A
NM_000071.2:c.1358+1G>A , LRG_777t1:c.1358+1G>A	NP_000062.1:n.1358+1G>A
NM_001178008.1:c.1358+1G>A	NP_001171479.1:n.1358+1G>A
NM_001178009.1:c.1358+1G>A	NP_001171480.1:n.1358+1G>A
XM_011529773.1:c.1409+1G>A	XP_011528075.1:n.1409+1G>A
XM_011529774.1:c.1409+1G>A	XP_011528076.1:n.1409+1G>A
XM_011529775.1:c.1409+1G>A	XP_011528077.1:n.1409+1G>A
XM_011529776.1:c.1409+1G>A	XP_011528078.1:n.1409+1G>A
XM_011529777.1:c.1358+1G>A	XP_011528079.1:n.1358+1G>A
XM_011529778.1:c.1358+1G>A	XP_011528080.1:n.1358+1G>A
XM_011529779.1:c.1358+1G>A	XP_011528081.1:n.1358+1G>A
XM_011529781.1:c.1358+1G>A	XP_011528083.1:n.1358+1G>A
XM_011529782.1:c.1358+1G>A	XP_011528084.1:n.1358+1G>A
XM_011529783.1:c.1043+1G>A	XP_011528085.1:n.1043+1G>A
XM_011529784.1:c.1043+1G>A	XP_011528086.1:n.1043+1G>A
NM_001178008.2:c.1358+1G>A	NP_001171479.1:n.1358+1G>A
NM_001178009.2:c.1358+1G>A	NP_001171480.1:n.1358+1G>A
NM_001320298.1:c.1358+1G>A	NP_001307227.1:n.1358+1G>A
NM_001321072.1:c.1043+1G>A	NP_001308001.1:n.1043+1G>A
XM_011529774.2:c.1409+1G>A	XP_011528076.1:n.1409+1G>A
XM_011529777.2:c.1358+1G>A	XP_011528079.1:n.1358+1G>A
XM_011529783.2:c.1043+1G>A	XP_011528085.1:n.1043+1G>A
XM_017028491.2:c.1358+1G>A	XP_016883980.1:n.1358+1G>A
XM_024452136.1:c.1409+1G>A	XP_024307904.1:n.1409+1G>A
XM_024452137.1:c.1409+1G>A	XP_024307905.1:n.1409+1G>A
XM_024452138.1:c.1043+1G>A	XP_024307906.1:n.1043+1G>A
XM_024452139.1:c.1043+1G>A	XP_024307907.1:n.1043+1G>A
XM_024452140.1:c.1043+1G>A	XP_024307908.1:n.1043+1G>A
XR_001754915.1:n.1729+1G>A
XR_001754916.2:n.1508+1G>A
XR_001754917.2:n.1508+1G>A
XR_002958634.1:n.2329+1G>A
NM_000071.3:c.1358+1G>A MANE Select	NP_000062.1:n.1358+1G>A
NM_001178009.3:c.1358+1G>A	NP_001171480.1:n.1358+1G>A
NM_001178008.3:c.1358+1G>A	NP_001171479.1:n.1358+1G>A
NM_001320298.2:c.1358+1G>A	NP_001307227.1:n.1358+1G>A