Canonical Allele Identifier: CA321094412

Gene: CBS

Linked Data

• ClinVar Variation Id: 471366
• ClinVar RCV Id: RCV000544919 ; RCV001260387 ; RCV002232086 ; RCV003128628
• dbSNP Id: rs757428597
• MyVariant Identifiers: chr21:g.43063992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43063992C>G , CM000683.2:g.43063992C>G	GRCh38
NG_008938.1:g.16939G>C , LRG_777:g.16939G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.737-1G>C MANE Select	ENSP00000381231.4:n.737-1G>C
ENST00000352178.9:c.737-1G>C	ENSP00000344460.5:n.737-1G>C
ENST00000359624.7:c.737-1G>C	ENSP00000352643.3:n.737-1G>C
ENST00000398158.5:c.737-1G>C	ENSP00000381225.1:n.737-1G>C
ENST00000398165.7:c.737-1G>C	ENSP00000381231.3:n.737-1G>C
ENST00000461686.5:n.1048-1G>C
ENST00000496485.1:n.236G>C
NM_000071.2:c.737-1G>C , LRG_777t1:c.737-1G>C	NP_000062.1:n.737-1G>C
NM_001178008.1:c.737-1G>C	NP_001171479.1:n.737-1G>C
NM_001178009.1:c.737-1G>C	NP_001171480.1:n.737-1G>C
XM_011529773.1:c.788-1G>C	XP_011528075.1:n.788-1G>C
XM_011529774.1:c.788-1G>C	XP_011528076.1:n.788-1G>C
XM_011529775.1:c.788-1G>C	XP_011528077.1:n.788-1G>C
XM_011529776.1:c.788-1G>C	XP_011528078.1:n.788-1G>C
XM_011529777.1:c.737-1G>C	XP_011528079.1:n.737-1G>C
XM_011529778.1:c.737-1G>C	XP_011528080.1:n.737-1G>C
XM_011529779.1:c.737-1G>C	XP_011528081.1:n.737-1G>C
XM_011529781.1:c.737-1G>C	XP_011528083.1:n.737-1G>C
XM_011529782.1:c.737-1G>C	XP_011528084.1:n.737-1G>C
XM_011529783.1:c.422-1G>C	XP_011528085.1:n.422-1G>C
XM_011529784.1:c.422-1G>C	XP_011528086.1:n.422-1G>C
NM_001178008.2:c.737-1G>C	NP_001171479.1:n.737-1G>C
NM_001178009.2:c.737-1G>C	NP_001171480.1:n.737-1G>C
NM_001320298.1:c.737-1G>C	NP_001307227.1:n.737-1G>C
NM_001321072.1:c.422-1G>C	NP_001308001.1:n.422-1G>C
XM_011529774.2:c.788-1G>C	XP_011528076.1:n.788-1G>C
XM_011529777.2:c.737-1G>C	XP_011528079.1:n.737-1G>C
XM_011529783.2:c.422-1G>C	XP_011528085.1:n.422-1G>C
XM_017028491.2:c.737-1G>C	XP_016883980.1:n.737-1G>C
XM_024452136.1:c.788-1G>C	XP_024307904.1:n.788-1G>C
XM_024452137.1:c.788-1G>C	XP_024307905.1:n.788-1G>C
XM_024452138.1:c.422-1G>C	XP_024307906.1:n.422-1G>C
XM_024452139.1:c.422-1G>C	XP_024307907.1:n.422-1G>C
XM_024452140.1:c.422-1G>C	XP_024307908.1:n.422-1G>C
XR_001754915.1:n.1108-1G>C
XR_001754916.2:n.887-1G>C
XR_001754917.2:n.887-1G>C
XR_002958634.1:n.887-1G>C
NM_000071.3:c.737-1G>C MANE Select	NP_000062.1:n.737-1G>C
NM_001178009.3:c.737-1G>C	NP_001171480.1:n.737-1G>C
NM_001178008.3:c.737-1G>C	NP_001171479.1:n.737-1G>C
NM_001320298.2:c.737-1G>C	NP_001307227.1:n.737-1G>C