Canonical Allele Identifier: CA164266905

Gene: LAMB1 DLD

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107928789G>A , CM000669.2:g.107928789G>A	GRCh38
NC_000007.13:g.107569234G>A , CM000669.1:g.107569234G>A	GRCh37
NC_000007.12:g.107356470G>A	NCBI36
NG_023255.1:g.79571C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.4887+275C>T (LAMB1) MANE Select	NP_002282.2:n.4887+275C>T
ENST00000222399.11:c.4887+275C>T (LAMB1) MANE Select	ENSP00000222399.6:n.4887+275C>T
NM_002291.2:c.4887+275C>T (LAMB1)	NP_002282.2:n.4887+275C>T
ENST00000222399.10:c.4887+275C>T (LAMB1)	ENSP00000222399.6:n.4887+275C>T
ENST00000393561.5:c.4959+275C>T (LAMB1)	ENSP00000377191.1:n.4959+275C>T
ENST00000393561.6:c.4476+275C>T (LAMB1)	ENSP00000377191.2:n.4476+275C>T
ENST00000417551.5:c.*125-2642G>A (DLD)	ENSP00000390667.1:n.*125-2642G>A
ENST00000468518.2:n.3121+275C>T (LAMB1)
ENST00000468999.2:n.3035+275C>T (LAMB1)
ENST00000472714.1:n.914+275C>T (LAMB1)
ENST00000472714.2:n.358+275C>T (LAMB1)
ENST00000474380.2:n.1702+275C>T (LAMB1)
ENST00000676574.1:c.*803+275C>T (LAMB1)	ENSP00000503081.1:n.*803+275C>T
ENST00000676744.1:n.733+275C>T (LAMB1)
ENST00000677101.1:c.*4523+275C>T (LAMB1)	ENSP00000503156.1:n.*4523+275C>T
ENST00000677144.1:c.*1706+275C>T (LAMB1)	ENSP00000503049.1:n.*1706+275C>T
ENST00000677485.1:n.6111+275C>T (LAMB1)
ENST00000677588.1:c.*1118+275C>T (LAMB1)	ENSP00000502938.1:n.*1118+275C>T
ENST00000677793.1:c.4575+275C>T (LAMB1)	ENSP00000504020.1:n.4575+275C>T
ENST00000677801.1:c.*716+275C>T (LAMB1)	ENSP00000503438.1:n.*716+275C>T
ENST00000678310.1:n.3056+275C>T (LAMB1)
ENST00000678698.1:c.*959+275C>T (LAMB1)	ENSP00000503198.1:n.*959+275C>T
ENST00000678704.1:c.*3469+275C>T (LAMB1)	ENSP00000504589.1:n.*3469+275C>T
ENST00000678892.1:c.*959+275C>T (LAMB1)	ENSP00000504841.1:n.*959+275C>T
ENST00000679200.1:c.*959+275C>T (LAMB1)	ENSP00000503498.1:n.*959+275C>T
XM_017012201.1:c.4959+275C>T (LAMB1)	XP_016867690.1:n.4959+275C>T
XR_001744756.1:n.5806+275C>T (LAMB1)