Canonical Allele Identifier: CA457111233

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571853C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931408C>T , CM000669.2:g.107931408C>T	GRCh38
NC_000007.13:g.107571853C>T , CM000669.1:g.107571853C>T	GRCh37
NC_000007.12:g.107359089C>T	NCBI36
NG_023255.1:g.76952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4485G>A (LAMB1) MANE Select	ENSP00000222399.6:p.Lys1495=
ENST00000393561.6:c.4074G>A (LAMB1)	ENSP00000377191.2:p.Lys1358=
ENST00000468518.2:n.2719G>A (LAMB1)
ENST00000468999.2:n.2633G>A (LAMB1)
ENST00000474380.2:n.1300G>A (LAMB1)
ENST00000676574.1:c.*401G>A (LAMB1)	ENSP00000503081.1:n.*401G>A
ENST00000676744.1:n.331G>A (LAMB1)
ENST00000676777.1:c.4485G>A (LAMB1)	ENSP00000504756.1:p.Lys1495=
ENST00000677101.1:c.*4121G>A (LAMB1)	ENSP00000503156.1:n.*4121G>A
ENST00000677144.1:c.*1304G>A (LAMB1)	ENSP00000503049.1:n.*1304G>A
ENST00000677485.1:n.5709G>A (LAMB1)
ENST00000677588.1:c.*716G>A (LAMB1)	ENSP00000502938.1:n.*716G>A
ENST00000677793.1:c.4173G>A (LAMB1)	ENSP00000504020.1:p.Lys1391=
ENST00000677801.1:c.*314G>A (LAMB1)	ENSP00000503438.1:n.*314G>A
ENST00000678232.1:n.4674G>A (LAMB1)
ENST00000678310.1:n.2654G>A (LAMB1)
ENST00000678698.1:c.*557G>A (LAMB1)	ENSP00000503198.1:n.*557G>A
ENST00000678704.1:c.*3067G>A (LAMB1)	ENSP00000504589.1:n.*3067G>A
ENST00000678892.1:c.*557G>A (LAMB1)	ENSP00000504841.1:n.*557G>A
ENST00000679200.1:c.*557G>A (LAMB1)	ENSP00000503498.1:n.*557G>A
ENST00000222399.10:c.4485G>A (LAMB1)	ENSP00000222399.6:p.Lys1495=
ENST00000393561.5:c.4557G>A (LAMB1)	ENSP00000377191.1:p.Lys1519=
ENST00000417551.5:c.*125-23C>T (DLD)	ENSP00000390667.1:n.*125-23C>T
ENST00000468518.1:n.544G>A (LAMB1)
ENST00000474380.1:n.722G>A (LAMB1)
NM_002291.2:c.4485G>A (LAMB1)	NP_002282.2:p.Lys1495=
XM_017012201.1:c.4557G>A (LAMB1)	XP_016867690.1:p.Lys1519=
XR_001744756.1:n.5404G>A (LAMB1)
NM_002291.3:c.4485G>A (LAMB1) MANE Select	NP_002282.2:p.Lys1495=