Canonical Allele Identifier: CA592139957

Gene: CUBN

Linked Data

• dbSNP Id: rs1452344914
• gnomAD v2: 10-16866783-T-A
• gnomAD v3: 10-16824784-T-A
• gnomAD v4: 10-16824784-T-A
• MyVariant Identifiers: chr10:g.16866783T>A (hg19) ; chr10:g.16824784T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.16824784T>A , CM000672.2:g.16824784T>A	GRCh38
NC_000010.10:g.16866783T>A , CM000672.1:g.16866783T>A	GRCh37
NC_000010.9:g.16906789T>A	NCBI36
NG_008967.1:g.310034A>T , LRG_540:g.310034A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377833.10:c.*191A>T MANE Select	ENSP00000367064.4:n.*191A>T
ENST00000377833.8:c.*191A>T	ENSP00000367064.4:n.*191A>T
NM_001081.3:c.*191A>T , LRG_540t1:c.*191A>T	NP_001072.2:n.*191A>T
XM_011519709.1:c.*191A>T	XP_011518011.1:n.*191A>T
XM_011519710.1:c.*191A>T	XP_011518012.1:n.*191A>T
XM_011519711.1:c.*191A>T	XP_011518013.1:n.*191A>T
XM_011519709.2:c.*191A>T	XP_011518011.1:n.*191A>T
XM_011519710.2:c.*191A>T	XP_011518012.1:n.*191A>T
XM_011519711.3:c.*191A>T	XP_011518013.1:n.*191A>T
NM_001081.4:c.*191A>T MANE Select	NP_001072.2:n.*191A>T