Canonical Allele Identifier: CA457111269

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs1294061309
• gnomAD v2: 7-107571925-C-T
• gnomAD v4: 7-107931480-C-T
• MyVariant Identifiers: chr7:g.107571925C>T (hg19) ; chr7:g.107931480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931480C>T , CM000669.2:g.107931480C>T	GRCh38
NC_000007.13:g.107571925C>T , CM000669.1:g.107571925C>T	GRCh37
NC_000007.12:g.107359161C>T	NCBI36
NG_023255.1:g.76880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4413G>A (LAMB1) MANE Select	ENSP00000222399.6:p.Arg1471=
ENST00000393561.6:c.4002G>A (LAMB1)	ENSP00000377191.2:p.Arg1334=
ENST00000468518.2:n.2647G>A (LAMB1)
ENST00000468999.2:n.2561G>A (LAMB1)
ENST00000474380.2:n.1228G>A (LAMB1)
ENST00000676574.1:c.*329G>A (LAMB1)	ENSP00000503081.1:n.*329G>A
ENST00000676744.1:n.259G>A (LAMB1)
ENST00000676777.1:c.4413G>A (LAMB1)	ENSP00000504756.1:p.Arg1471=
ENST00000677101.1:c.*4049G>A (LAMB1)	ENSP00000503156.1:n.*4049G>A
ENST00000677144.1:c.*1232G>A (LAMB1)	ENSP00000503049.1:n.*1232G>A
ENST00000677485.1:n.5637G>A (LAMB1)
ENST00000677588.1:c.*644G>A (LAMB1)	ENSP00000502938.1:n.*644G>A
ENST00000677793.1:c.4101G>A (LAMB1)	ENSP00000504020.1:p.Arg1367=
ENST00000677801.1:c.*242G>A (LAMB1)	ENSP00000503438.1:n.*242G>A
ENST00000678232.1:n.4602G>A (LAMB1)
ENST00000678310.1:n.2582G>A (LAMB1)
ENST00000678698.1:c.*485G>A (LAMB1)	ENSP00000503198.1:n.*485G>A
ENST00000678704.1:c.*2995G>A (LAMB1)	ENSP00000504589.1:n.*2995G>A
ENST00000678892.1:c.*485G>A (LAMB1)	ENSP00000504841.1:n.*485G>A
ENST00000679200.1:c.*485G>A (LAMB1)	ENSP00000503498.1:n.*485G>A
ENST00000222399.10:c.4413G>A (LAMB1)	ENSP00000222399.6:p.Arg1471=
ENST00000393561.5:c.4485G>A (LAMB1)	ENSP00000377191.1:p.Arg1495=
ENST00000417551.5:c.*174C>T (DLD)	ENSP00000390667.1:n.*174C>T
ENST00000468518.1:n.472G>A (LAMB1)
ENST00000474380.1:n.650G>A (LAMB1)
NM_002291.2:c.4413G>A (LAMB1)	NP_002282.2:p.Arg1471=
XM_017012201.1:c.4485G>A (LAMB1)	XP_016867690.1:p.Arg1495=
XR_001744756.1:n.5332G>A (LAMB1)
NM_002291.3:c.4413G>A (LAMB1) MANE Select	NP_002282.2:p.Arg1471=