Canonical Allele Identifier: CA322372

Gene: CBS

Linked Data

• ClinVar Variation Id: 212827
• ClinVar RCV Id: RCV000197907 ; RCV000230184 ; RCV001812186 ; RCV002277458 ; RCV002310756 ; RCV002517160
• dbSNP Id: rs61735859
• gnomAD v3: 21-43060527-C-T
• gnomAD v4: 21-43060527-C-T
• MyVariant Identifiers: chr21:g.43060527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43060527C>T , CM000683.2:g.43060527C>T	GRCh38
NG_008938.1:g.20404G>A , LRG_777:g.20404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.1059G>A MANE Select	ENSP00000381231.4:p.Thr353=
ENST00000352178.9:c.1059G>A	ENSP00000344460.5:p.Thr353=
ENST00000359624.7:c.1059G>A	ENSP00000352643.3:p.Thr353=
ENST00000398158.5:c.1059G>A	ENSP00000381225.1:p.Thr353=
ENST00000398165.7:c.1059G>A	ENSP00000381231.3:p.Thr353=
ENST00000430013.1:c.20G>A
ENST00000461686.5:n.1370G>A
ENST00000496485.1:n.559G>A
NM_000071.2:c.1059G>A , LRG_777t1:c.1059G>A	NP_000062.1:p.Thr353=
NM_001178008.1:c.1059G>A	NP_001171479.1:p.Thr353=
NM_001178009.1:c.1059G>A	NP_001171480.1:p.Thr353=
XM_011529773.1:c.1110G>A	XP_011528075.1:p.Thr370=
XM_011529774.1:c.1110G>A	XP_011528076.1:p.Thr370=
XM_011529775.1:c.1110G>A	XP_011528077.1:p.Thr370=
XM_011529776.1:c.1110G>A	XP_011528078.1:p.Thr370=
XM_011529777.1:c.1059G>A	XP_011528079.1:p.Thr353=
XM_011529778.1:c.1059G>A	XP_011528080.1:p.Thr353=
XM_011529779.1:c.1059G>A	XP_011528081.1:p.Thr353=
XM_011529781.1:c.1059G>A	XP_011528083.1:p.Thr353=
XM_011529782.1:c.1059G>A	XP_011528084.1:p.Thr353=
XM_011529783.1:c.744G>A	XP_011528085.1:p.Thr248=
XM_011529784.1:c.744G>A	XP_011528086.1:p.Thr248=
NM_001178008.2:c.1059G>A	NP_001171479.1:p.Thr353=
NM_001178009.2:c.1059G>A	NP_001171480.1:p.Thr353=
NM_001320298.1:c.1059G>A	NP_001307227.1:p.Thr353=
NM_001321072.1:c.744G>A	NP_001308001.1:p.Thr248=
XM_011529774.2:c.1110G>A	XP_011528076.1:p.Thr370=
XM_011529777.2:c.1059G>A	XP_011528079.1:p.Thr353=
XM_011529783.2:c.744G>A	XP_011528085.1:p.Thr248=
XM_017028491.2:c.1059G>A	XP_016883980.1:p.Thr353=
XM_024452136.1:c.1110G>A	XP_024307904.1:p.Thr370=
XM_024452137.1:c.1110G>A	XP_024307905.1:p.Thr370=
XM_024452138.1:c.744G>A	XP_024307906.1:p.Thr248=
XM_024452139.1:c.744G>A	XP_024307907.1:p.Thr248=
XM_024452140.1:c.744G>A	XP_024307908.1:p.Thr248=
XR_001754915.1:n.1430G>A
XR_001754916.2:n.1209G>A
XR_001754917.2:n.1209G>A
XR_002958634.1:n.2030G>A
NM_000071.3:c.1059G>A MANE Select	NP_000062.1:p.Thr353=
NM_001178009.3:c.1059G>A	NP_001171480.1:p.Thr353=
NM_001178008.3:c.1059G>A	NP_001171479.1:p.Thr353=
NM_001320298.2:c.1059G>A	NP_001307227.1:p.Thr353=