Canonical Allele Identifier: CA4434791

Gene: LAMB1 DLD

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107924095G>T , CM000669.2:g.107924095G>T	GRCh38
NC_000007.13:g.107564540G>T , CM000669.1:g.107564540G>T	GRCh37
NC_000007.12:g.107351776G>T	NCBI36
NG_023255.1:g.84265C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.5225-8C>A (LAMB1) MANE Select	NP_002282.2:n.5225-8C>A
ENST00000222399.11:c.5225-8C>A (LAMB1) MANE Select	ENSP00000222399.6:n.5225-8C>A
NM_002291.2:c.5225-8C>A (LAMB1)	NP_002282.2:n.5225-8C>A
ENST00000222399.10:c.5225-8C>A (LAMB1)	ENSP00000222399.6:n.5225-8C>A
ENST00000393561.5:c.5297-8C>A (LAMB1)	ENSP00000377191.1:n.5297-8C>A
ENST00000393561.6:c.4814-8C>A (LAMB1)	ENSP00000377191.2:n.4814-8C>A
ENST00000417551.5:c.*124+4712G>T (DLD)	ENSP00000390667.1:n.*124+4712G>T
ENST00000468518.2:n.3459-8C>A (LAMB1)
ENST00000468999.2:n.3373-8C>A (LAMB1)
ENST00000472714.1:n.1252-8C>A (LAMB1)
ENST00000472714.2:n.696-8C>A (LAMB1)
ENST00000474380.2:n.2040-8C>A (LAMB1)
ENST00000676574.1:c.*1141-8C>A (LAMB1)	ENSP00000503081.1:n.*1141-8C>A
ENST00000676744.1:n.1071-8C>A (LAMB1)
ENST00000677101.1:c.*4861-8C>A (LAMB1)	ENSP00000503156.1:n.*4861-8C>A
ENST00000677144.1:c.*2044-8C>A (LAMB1)	ENSP00000503049.1:n.*2044-8C>A
ENST00000677485.1:n.6449-8C>A (LAMB1)
ENST00000677588.1:c.*1456-8C>A (LAMB1)	ENSP00000502938.1:n.*1456-8C>A
ENST00000677793.1:c.4913-8C>A (LAMB1)	ENSP00000504020.1:n.4913-8C>A
ENST00000677801.1:c.*1054-8C>A (LAMB1)	ENSP00000503438.1:n.*1054-8C>A
ENST00000677957.1:n.2624-8C>A (LAMB1)
ENST00000678310.1:n.3394-8C>A (LAMB1)
ENST00000678698.1:c.*1297-8C>A (LAMB1)	ENSP00000503198.1:n.*1297-8C>A
ENST00000678704.1:c.*3807-8C>A (LAMB1)	ENSP00000504589.1:n.*3807-8C>A
ENST00000678892.1:c.*1297-8C>A (LAMB1)	ENSP00000504841.1:n.*1297-8C>A
ENST00000678984.1:n.4121-8C>A (LAMB1)
ENST00000679200.1:c.*1297-8C>A (LAMB1)	ENSP00000503498.1:n.*1297-8C>A
XM_017012201.1:c.5297-8C>A (LAMB1)	XP_016867690.1:n.5297-8C>A
XR_001744756.1:n.6144-8C>A (LAMB1)