Canonical Allele Identifier: CA113900
Gene: CBS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 130
dbSNP Id: rs121964971
MyVariant Identifiers: chr21:g.43058215G>A (hg38)

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43058215G>A , CM000683.2:g.43058215G>A GRCh38
NG_008938.1:g.22716C>T , LRG_777:g.22716C>T

Transcript Alleles

HGVS Amino-acid change
NM_000071.2:c.1397C>T , LRG_777t1:c.1397C>T NP_000062.1:p.Ser466Leu
NM_001178008.1:c.1397C>T VV NP_001171479.1:p.Ser466Leu
NM_001178009.1:c.1397C>T VV NP_001171480.1:p.Ser466Leu
XM_011529773.1:c.1448C>T XP_011528075.1:p.Ser483Leu
XM_011529774.1:c.1448C>T XP_011528076.1:p.Ser483Leu
XM_011529775.1:c.1448C>T XP_011528077.1:p.Ser483Leu
XM_011529776.1:c.1448C>T XP_011528078.1:p.Ser483Leu
XM_011529777.1:c.1397C>T XP_011528079.1:p.Ser466Leu
XM_011529778.1:c.1397C>T XP_011528080.1:p.Ser466Leu
XM_011529779.1:c.1397C>T XP_011528081.1:p.Ser466Leu
XM_011529781.1:c.1397C>T XP_011528083.1:p.Ser466Leu
XM_011529782.1:c.1397C>T XP_011528084.1:p.Ser466Leu
XM_011529783.1:c.1082C>T XP_011528085.1:p.Ser361Leu
XM_011529784.1:c.1082C>T XP_011528086.1:p.Ser361Leu
NM_001178008.2:c.1397C>T VV
NM_001178009.2:c.1397C>T VV
NM_001320298.1:c.1397C>T VV NP_001307227.1:p.Ser466Leu
NM_001321072.1:c.1082C>T VV NP_001308001.1:p.Ser361Leu
XM_011529774.2:c.1448C>T
XM_011529777.2:c.1397C>T
XM_011529783.2:c.1082C>T
XM_017028491.2:c.1397C>T XP_016883980.1:p.Ser466Leu
XM_024452136.1:c.1448C>T XP_024307904.1:p.Ser483Leu
XM_024452137.1:c.1448C>T XP_024307905.1:p.Ser483Leu
XM_024452138.1:c.1082C>T XP_024307906.1:p.Ser361Leu
XM_024452139.1:c.1082C>T XP_024307907.1:p.Ser361Leu
XM_024452140.1:c.1082C>T XP_024307908.1:p.Ser361Leu
XR_001754915.1:n.1846+76C>T
XR_001754916.2:n.1701C>T
XR_001754917.2:n.1701C>T
XR_002958634.1:n.2446+76C>T
ENST00000352178.9:c.1397C>T ENSP00000344460.5:p.Ser466Leu
ENST00000359624.7:c.1397C>T ENSP00000352643.3:p.Ser466Leu
ENST00000398158.5:c.1397C>T ENSP00000381225.1:p.Ser466Leu
ENST00000398165.7:c.1397C>T ENSP00000381231.3:p.Ser466Leu
ENST00000430013.1:n.358C>T
ENST00000451248.5:n.147C>T
ENST00000458223.5:n.160C>T
ENST00000461686.5:n.1708C>T
ENST00000462349.5:n.688C>T
ENST00000491776.1:n.332C>T