Canonical Allele Identifier: CA274473
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 189185
dbSNP Id: rs786204757
MyVariant Identifiers: chr21:g.43068523A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43068523A>G , CM000683.2:g.43068523A>G GRCh38
NG_008938.1:g.12408T>C , LRG_777:g.12408T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000398165.8:c.302T>C MANE Select ENSP00000381231.4:p.Leu101Pro
ENST00000352178.9:c.302T>C ENSP00000344460.5:p.Leu101Pro
ENST00000359624.7:c.302T>C ENSP00000352643.3:p.Leu101Pro
ENST00000398158.5:c.302T>C ENSP00000381225.1:p.Leu101Pro
ENST00000398165.7:c.302T>C ENSP00000381231.3:p.Leu101Pro
ENST00000441030.5:c.302T>C ENSP00000388235.1:p.Leu101Pro
ENST00000465732.5:n.481T>C
ENST00000470912.5:n.562T>C
ENST00000488526.1:n.553T>C
NM_000071.2:c.302T>C , LRG_777t1:c.302T>C NP_000062.1:p.Leu101Pro
NM_001178008.1:c.302T>C NP_001171479.1:p.Leu101Pro
NM_001178009.1:c.302T>C NP_001171480.1:p.Leu101Pro
XM_011529777.1:c.302T>C XP_011528079.1:p.Leu101Pro
XM_011529778.1:c.302T>C XP_011528080.1:p.Leu101Pro
XM_011529779.1:c.302T>C XP_011528081.1:p.Leu101Pro
XM_011529781.1:c.302T>C XP_011528083.1:p.Leu101Pro
XM_011529782.1:c.302T>C XP_011528084.1:p.Leu101Pro
NM_001178008.2:c.302T>C NP_001171479.1:p.Leu101Pro
NM_001178009.2:c.302T>C NP_001171480.1:p.Leu101Pro
NM_001320298.1:c.302T>C NP_001307227.1:p.Leu101Pro
XM_011529777.2:c.302T>C XP_011528079.1:p.Leu101Pro
XM_017028491.2:c.302T>C XP_016883980.1:p.Leu101Pro
XM_024452136.1:c.-467T>C XP_024307904.1:n.-467T>C
XM_024452137.1:c.-467T>C XP_024307905.1:n.-467T>C
XM_024452138.1:c.-745T>C XP_024307906.1:n.-745T>C
XM_024452139.1:c.-745T>C XP_024307907.1:n.-745T>C
XM_024452140.1:c.-745T>C XP_024307908.1:n.-745T>C
XR_001754916.2:n.452T>C
XR_001754917.2:n.452T>C
XR_002958634.1:n.452T>C
NM_000071.3:c.302T>C MANE Select NP_000062.1:p.Leu101Pro
NM_001178009.3:c.302T>C NP_001171480.1:p.Leu101Pro
NM_001178008.3:c.302T>C NP_001171479.1:p.Leu101Pro
NM_001320298.2:c.302T>C NP_001307227.1:p.Leu101Pro