Canonical Allele Identifier: CA368864129

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571893A>T (hg19) ; chr7:g.107931448A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931448A>T , CM000669.2:g.107931448A>T	GRCh38
NC_000007.13:g.107571893A>T , CM000669.1:g.107571893A>T	GRCh37
NC_000007.12:g.107359129A>T	NCBI36
NG_023255.1:g.76912T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4445T>A (LAMB1) MANE Select	ENSP00000222399.6:p.Ile1482Asn
ENST00000393561.6:c.4034T>A (LAMB1)	ENSP00000377191.2:p.Ile1345Asn
ENST00000468518.2:n.2679T>A (LAMB1)
ENST00000468999.2:n.2593T>A (LAMB1)
ENST00000474380.2:n.1260T>A (LAMB1)
ENST00000676574.1:c.*361T>A (LAMB1)	ENSP00000503081.1:n.*361T>A
ENST00000676744.1:n.291T>A (LAMB1)
ENST00000676777.1:c.4445T>A (LAMB1)	ENSP00000504756.1:p.Ile1482Asn
ENST00000677101.1:c.*4081T>A (LAMB1)	ENSP00000503156.1:n.*4081T>A
ENST00000677144.1:c.*1264T>A (LAMB1)	ENSP00000503049.1:n.*1264T>A
ENST00000677485.1:n.5669T>A (LAMB1)
ENST00000677588.1:c.*676T>A (LAMB1)	ENSP00000502938.1:n.*676T>A
ENST00000677793.1:c.4133T>A (LAMB1)	ENSP00000504020.1:p.Ile1378Asn
ENST00000677801.1:c.*274T>A (LAMB1)	ENSP00000503438.1:n.*274T>A
ENST00000678232.1:n.4634T>A (LAMB1)
ENST00000678310.1:n.2614T>A (LAMB1)
ENST00000678698.1:c.*517T>A (LAMB1)	ENSP00000503198.1:n.*517T>A
ENST00000678704.1:c.*3027T>A (LAMB1)	ENSP00000504589.1:n.*3027T>A
ENST00000678892.1:c.*517T>A (LAMB1)	ENSP00000504841.1:n.*517T>A
ENST00000679200.1:c.*517T>A (LAMB1)	ENSP00000503498.1:n.*517T>A
ENST00000222399.10:c.4445T>A (LAMB1)	ENSP00000222399.6:p.Ile1482Asn
ENST00000393561.5:c.4517T>A (LAMB1)	ENSP00000377191.1:p.Ile1506Asn
ENST00000417551.5:c.*142A>T (DLD)	ENSP00000390667.1:n.*142A>T
ENST00000468518.1:n.504T>A (LAMB1)
ENST00000474380.1:n.682T>A (LAMB1)
NM_002291.2:c.4445T>A (LAMB1)	NP_002282.2:p.Ile1482Asn
XM_017012201.1:c.4517T>A (LAMB1)	XP_016867690.1:p.Ile1506Asn
XR_001744756.1:n.5364T>A (LAMB1)
NM_002291.3:c.4445T>A (LAMB1) MANE Select	NP_002282.2:p.Ile1482Asn