Canonical Allele Identifier: CA2742038401
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.[43068519C>G;43068592G>C] , CM000683.2:g.[43068519C>G;43068592G>C] GRCh38
NG_008938.1:g.[12339C>G;12412G>C] , LRG_777:g.[12339C>G;12412G>C]

Transcript Alleles

HGVS Amino-acid Change
ENST00000398165.8:c.[233C>G;306G>C] MANE Select ENSP00000381231.4:p.[Pro78Arg;Lys102Asn]
ENST00000352178.9:c.[233C>G;306G>C] ENSP00000344460.5:p.[Pro78Arg;Lys102Asn]
ENST00000359624.7:c.[233C>G;306G>C] ENSP00000352643.3:p.[Pro78Arg;Lys102Asn]
ENST00000398158.5:c.[233C>G;306G>C] ENSP00000381225.1:p.[Pro78Arg;Lys102Asn]
ENST00000398165.7:c.[233C>G;306G>C] ENSP00000381231.3:p.[Pro78Arg;Lys102Asn]
ENST00000441030.5:c.[233C>G;306G>C] ENSP00000388235.1:p.[Pro78Arg;Lys102Asn]
ENST00000465732.5:n.[412C>G;485G>C]
ENST00000470912.5:n.[493C>G;566G>C]
ENST00000488526.1:n.[484C>G;557G>C]
NM_000071.2:c.[233C>G;306G>C] , LRG_777t1:c.[233C>G;306G>C] NP_000062.1:p.[Pro78Arg;Lys102Asn]
NM_001178008.1:c.[233C>G;306G>C] NP_001171479.1:p.[Pro78Arg;Lys102Asn]
NM_001178009.1:c.[233C>G;306G>C] NP_001171480.1:p.[Pro78Arg;Lys102Asn]
XM_011529777.1:c.[233C>G;306G>C] XP_011528079.1:p.[Pro78Arg;Lys102Asn]
XM_011529778.1:c.[233C>G;306G>C] XP_011528080.1:p.[Pro78Arg;Lys102Asn]
XM_011529779.1:c.[233C>G;306G>C] XP_011528081.1:p.[Pro78Arg;Lys102Asn]
XM_011529781.1:c.[233C>G;306G>C] XP_011528083.1:p.[Pro78Arg;Lys102Asn]
XM_011529782.1:c.[233C>G;306G>C] XP_011528084.1:p.[Pro78Arg;Lys102Asn]
NM_001178008.2:c.[233C>G;306G>C] NP_001171479.1:p.[Pro78Arg;Lys102Asn]
NM_001178009.2:c.[233C>G;306G>C] NP_001171480.1:p.[Pro78Arg;Lys102Asn]
NM_001320298.1:c.[233C>G;306G>C] NP_001307227.1:p.[Pro78Arg;Lys102Asn]
XM_011529777.2:c.[233C>G;306G>C] XP_011528079.1:p.[Pro78Arg;Lys102Asn]
XM_017028491.2:c.[233C>G;306G>C] XP_016883980.1:p.[Pro78Arg;Lys102Asn]
XM_024452136.1:c.[-536C>G;-463G>C] XP_024307904.1:n.[-536C>G;-463G>C]
XM_024452137.1:c.[-536C>G;-463G>C] XP_024307905.1:n.[-536C>G;-463G>C]
XM_024452138.1:c.[-814C>G;-741G>C] XP_024307906.1:n.[-814C>G;-741G>C]
XM_024452139.1:c.[-814C>G;-741G>C] XP_024307907.1:n.[-814C>G;-741G>C]
XM_024452140.1:c.[-814C>G;-741G>C] XP_024307908.1:n.[-814C>G;-741G>C]
XR_001754916.2:n.[383C>G;456G>C]
XR_001754917.2:n.[383C>G;456G>C]
XR_002958634.1:n.[383C>G;456G>C]
NM_000071.3:c.[233C>G;306G>C] MANE Select NP_000062.1:p.[Pro78Arg;Lys102Asn]
NM_001178009.3:c.[233C>G;306G>C] NP_001171480.1:p.[Pro78Arg;Lys102Asn]
NM_001178008.3:c.[233C>G;306G>C] NP_001171479.1:p.[Pro78Arg;Lys102Asn]
NM_001320298.2:c.[233C>G;306G>C] NP_001307227.1:p.[Pro78Arg;Lys102Asn]