Canonical Allele Identifier: CA410602142

Gene: CBS

Linked Data

• ClinVar Variation Id: 2577381
• ClinVar RCV Id: RCV003324458
• dbSNP Id: rs1480481730
• MyVariant Identifiers: chr21:g.43068584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43068584G>C , CM000683.2:g.43068584G>C	GRCh38
NG_008938.1:g.12347C>G , LRG_777:g.12347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.241C>G MANE Select	ENSP00000381231.4:p.Leu81Val
ENST00000352178.9:c.241C>G	ENSP00000344460.5:p.Leu81Val
ENST00000359624.7:c.241C>G	ENSP00000352643.3:p.Leu81Val
ENST00000398158.5:c.241C>G	ENSP00000381225.1:p.Leu81Val
ENST00000398165.7:c.241C>G	ENSP00000381231.3:p.Leu81Val
ENST00000441030.5:c.241C>G	ENSP00000388235.1:p.Leu81Val
ENST00000465732.5:n.420C>G
ENST00000470912.5:n.501C>G
ENST00000488526.1:n.492C>G
NM_000071.2:c.241C>G , LRG_777t1:c.241C>G	NP_000062.1:p.Leu81Val
NM_001178008.1:c.241C>G	NP_001171479.1:p.Leu81Val
NM_001178009.1:c.241C>G	NP_001171480.1:p.Leu81Val
XM_011529777.1:c.241C>G	XP_011528079.1:p.Leu81Val
XM_011529778.1:c.241C>G	XP_011528080.1:p.Leu81Val
XM_011529779.1:c.241C>G	XP_011528081.1:p.Leu81Val
XM_011529781.1:c.241C>G	XP_011528083.1:p.Leu81Val
XM_011529782.1:c.241C>G	XP_011528084.1:p.Leu81Val
NM_001178008.2:c.241C>G	NP_001171479.1:p.Leu81Val
NM_001178009.2:c.241C>G	NP_001171480.1:p.Leu81Val
NM_001320298.1:c.241C>G	NP_001307227.1:p.Leu81Val
XM_011529777.2:c.241C>G	XP_011528079.1:p.Leu81Val
XM_017028491.2:c.241C>G	XP_016883980.1:p.Leu81Val
XM_024452136.1:c.-528C>G	XP_024307904.1:n.-528C>G
XM_024452137.1:c.-528C>G	XP_024307905.1:n.-528C>G
XM_024452138.1:c.-806C>G	XP_024307906.1:n.-806C>G
XM_024452139.1:c.-806C>G	XP_024307907.1:n.-806C>G
XM_024452140.1:c.-806C>G	XP_024307908.1:n.-806C>G
XR_001754916.2:n.391C>G
XR_001754917.2:n.391C>G
XR_002958634.1:n.391C>G
NM_000071.3:c.241C>G MANE Select	NP_000062.1:p.Leu81Val
NM_001178009.3:c.241C>G	NP_001171480.1:p.Leu81Val
NM_001178008.3:c.241C>G	NP_001171479.1:p.Leu81Val
NM_001320298.2:c.241C>G	NP_001307227.1:p.Leu81Val