Canonical Allele Identifier: CA457111222

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571829T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931384T>G , CM000669.2:g.107931384T>G	GRCh38
NC_000007.13:g.107571829T>G , CM000669.1:g.107571829T>G	GRCh37
NC_000007.12:g.107359065T>G	NCBI36
NG_023255.1:g.76976A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4509A>C (LAMB1) MANE Select	ENSP00000222399.6:p.Leu1503=
ENST00000393561.6:c.4098A>C (LAMB1)	ENSP00000377191.2:p.Leu1366=
ENST00000468518.2:n.2743A>C (LAMB1)
ENST00000468999.2:n.2657A>C (LAMB1)
ENST00000474380.2:n.1324A>C (LAMB1)
ENST00000676574.1:c.*425A>C (LAMB1)	ENSP00000503081.1:n.*425A>C
ENST00000676744.1:n.355A>C (LAMB1)
ENST00000676777.1:c.4509A>C (LAMB1)	ENSP00000504756.1:p.Leu1503=
ENST00000677101.1:c.*4145A>C (LAMB1)	ENSP00000503156.1:n.*4145A>C
ENST00000677144.1:c.*1328A>C (LAMB1)	ENSP00000503049.1:n.*1328A>C
ENST00000677485.1:n.5733A>C (LAMB1)
ENST00000677588.1:c.*740A>C (LAMB1)	ENSP00000502938.1:n.*740A>C
ENST00000677793.1:c.4197A>C (LAMB1)	ENSP00000504020.1:p.Leu1399=
ENST00000677801.1:c.*338A>C (LAMB1)	ENSP00000503438.1:n.*338A>C
ENST00000677883.1:n.20A>C (LAMB1)
ENST00000678232.1:n.4698A>C (LAMB1)
ENST00000678310.1:n.2678A>C (LAMB1)
ENST00000678698.1:c.*581A>C (LAMB1)	ENSP00000503198.1:n.*581A>C
ENST00000678704.1:c.*3091A>C (LAMB1)	ENSP00000504589.1:n.*3091A>C
ENST00000678892.1:c.*581A>C (LAMB1)	ENSP00000504841.1:n.*581A>C
ENST00000679200.1:c.*581A>C (LAMB1)	ENSP00000503498.1:n.*581A>C
ENST00000222399.10:c.4509A>C (LAMB1)	ENSP00000222399.6:p.Leu1503=
ENST00000393561.5:c.4581A>C (LAMB1)	ENSP00000377191.1:p.Leu1527=
ENST00000417551.5:c.*125-47T>G (DLD)	ENSP00000390667.1:n.*125-47T>G
ENST00000468518.1:n.568A>C (LAMB1)
ENST00000474380.1:n.746A>C (LAMB1)
NM_002291.2:c.4509A>C (LAMB1)	NP_002282.2:p.Leu1503=
XM_017012201.1:c.4581A>C (LAMB1)	XP_016867690.1:p.Leu1527=
XR_001744756.1:n.5428A>C (LAMB1)
NM_002291.3:c.4509A>C (LAMB1) MANE Select	NP_002282.2:p.Leu1503=