Canonical Allele Identifier: CA457111236

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571871G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931426G>C , CM000669.2:g.107931426G>C	GRCh38
NC_000007.13:g.107571871G>C , CM000669.1:g.107571871G>C	GRCh37
NC_000007.12:g.107359107G>C	NCBI36
NG_023255.1:g.76934C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4467C>G (LAMB1) MANE Select	ENSP00000222399.6:p.Thr1489=
ENST00000393561.6:c.4056C>G (LAMB1)	ENSP00000377191.2:p.Thr1352=
ENST00000468518.2:n.2701C>G (LAMB1)
ENST00000468999.2:n.2615C>G (LAMB1)
ENST00000474380.2:n.1282C>G (LAMB1)
ENST00000676574.1:c.*383C>G (LAMB1)	ENSP00000503081.1:n.*383C>G
ENST00000676744.1:n.313C>G (LAMB1)
ENST00000676777.1:c.4467C>G (LAMB1)	ENSP00000504756.1:p.Thr1489=
ENST00000677101.1:c.*4103C>G (LAMB1)	ENSP00000503156.1:n.*4103C>G
ENST00000677144.1:c.*1286C>G (LAMB1)	ENSP00000503049.1:n.*1286C>G
ENST00000677485.1:n.5691C>G (LAMB1)
ENST00000677588.1:c.*698C>G (LAMB1)	ENSP00000502938.1:n.*698C>G
ENST00000677793.1:c.4155C>G (LAMB1)	ENSP00000504020.1:p.Thr1385=
ENST00000677801.1:c.*296C>G (LAMB1)	ENSP00000503438.1:n.*296C>G
ENST00000678232.1:n.4656C>G (LAMB1)
ENST00000678310.1:n.2636C>G (LAMB1)
ENST00000678698.1:c.*539C>G (LAMB1)	ENSP00000503198.1:n.*539C>G
ENST00000678704.1:c.*3049C>G (LAMB1)	ENSP00000504589.1:n.*3049C>G
ENST00000678892.1:c.*539C>G (LAMB1)	ENSP00000504841.1:n.*539C>G
ENST00000679200.1:c.*539C>G (LAMB1)	ENSP00000503498.1:n.*539C>G
ENST00000222399.10:c.4467C>G (LAMB1)	ENSP00000222399.6:p.Thr1489=
ENST00000393561.5:c.4539C>G (LAMB1)	ENSP00000377191.1:p.Thr1513=
ENST00000417551.5:c.*125-5G>C (DLD)	ENSP00000390667.1:n.*125-5G>C
ENST00000468518.1:n.526C>G (LAMB1)
ENST00000474380.1:n.704C>G (LAMB1)
NM_002291.2:c.4467C>G (LAMB1)	NP_002282.2:p.Thr1489=
XM_017012201.1:c.4539C>G (LAMB1)	XP_016867690.1:p.Thr1513=
XR_001744756.1:n.5386C>G (LAMB1)
NM_002291.3:c.4467C>G (LAMB1) MANE Select	NP_002282.2:p.Thr1489=