Canonical Allele Identifier: CA16608557

Gene: CBS

Linked Data

• ClinVar Variation Id: 381476
• ClinVar RCV Id: RCV001712370 ; RCV002313064 ; RCV002230024
• dbSNP Id: rs754246295
• gnomAD v3: 21-43065646-G-A
• gnomAD v4: 21-43065646-G-A
• MyVariant Identifiers: chr21:g.43065646G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43065646G>A , CM000683.2:g.43065646G>A	GRCh38
NG_008938.1:g.15285C>T , LRG_777:g.15285C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.501C>T MANE Select	ENSP00000381231.4:p.Ile167=
ENST00000352178.9:c.501C>T	ENSP00000344460.5:p.Ile167=
ENST00000359624.7:c.501C>T	ENSP00000352643.3:p.Ile167=
ENST00000398158.5:c.501C>T	ENSP00000381225.1:p.Ile167=
ENST00000398165.7:c.501C>T	ENSP00000381231.3:p.Ile167=
ENST00000441030.5:c.501C>T	ENSP00000388235.1:p.Ile167=
ENST00000461686.5:n.812C>T
NM_000071.2:c.501C>T , LRG_777t1:c.501C>T	NP_000062.1:p.Ile167=
NM_001178008.1:c.501C>T	NP_001171479.1:p.Ile167=
NM_001178009.1:c.501C>T	NP_001171480.1:p.Ile167=
XM_011529773.1:c.552C>T	XP_011528075.1:p.Ile184=
XM_011529774.1:c.552C>T	XP_011528076.1:p.Ile184=
XM_011529775.1:c.552C>T	XP_011528077.1:p.Ile184=
XM_011529776.1:c.552C>T	XP_011528078.1:p.Ile184=
XM_011529777.1:c.501C>T	XP_011528079.1:p.Ile167=
XM_011529778.1:c.501C>T	XP_011528080.1:p.Ile167=
XM_011529779.1:c.501C>T	XP_011528081.1:p.Ile167=
XM_011529781.1:c.501C>T	XP_011528083.1:p.Ile167=
XM_011529782.1:c.501C>T	XP_011528084.1:p.Ile167=
XM_011529783.1:c.186C>T	XP_011528085.1:p.Ile62=
XM_011529784.1:c.186C>T	XP_011528086.1:p.Ile62=
NM_001178008.2:c.501C>T	NP_001171479.1:p.Ile167=
NM_001178009.2:c.501C>T	NP_001171480.1:p.Ile167=
NM_001320298.1:c.501C>T	NP_001307227.1:p.Ile167=
NM_001321072.1:c.186C>T	NP_001308001.1:p.Ile62=
XM_011529774.2:c.552C>T	XP_011528076.1:p.Ile184=
XM_011529777.2:c.501C>T	XP_011528079.1:p.Ile167=
XM_011529783.2:c.186C>T	XP_011528085.1:p.Ile62=
XM_017028491.2:c.501C>T	XP_016883980.1:p.Ile167=
XM_024452136.1:c.552C>T	XP_024307904.1:p.Ile184=
XM_024452137.1:c.552C>T	XP_024307905.1:p.Ile184=
XM_024452138.1:c.186C>T	XP_024307906.1:p.Ile62=
XM_024452139.1:c.186C>T	XP_024307907.1:p.Ile62=
XM_024452140.1:c.186C>T	XP_024307908.1:p.Ile62=
XR_001754915.1:n.872C>T
XR_001754916.2:n.651C>T
XR_001754917.2:n.651C>T
XR_002958634.1:n.651C>T
NM_000071.3:c.501C>T MANE Select	NP_000062.1:p.Ile167=
NM_001178009.3:c.501C>T	NP_001171480.1:p.Ile167=
NM_001178008.3:c.501C>T	NP_001171479.1:p.Ile167=
NM_001320298.2:c.501C>T	NP_001307227.1:p.Ile167=