Canonical Allele Identifier: CA368864307

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571936C>G (hg19) ; chr7:g.107931491C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931491C>G , CM000669.2:g.107931491C>G	GRCh38
NC_000007.13:g.107571936C>G , CM000669.1:g.107571936C>G	GRCh37
NC_000007.12:g.107359172C>G	NCBI36
NG_023255.1:g.76869G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4402G>C (LAMB1) MANE Select	ENSP00000222399.6:p.Ala1468Pro
ENST00000393561.6:c.3991G>C (LAMB1)	ENSP00000377191.2:p.Ala1331Pro
ENST00000468518.2:n.2636G>C (LAMB1)
ENST00000468999.2:n.2550G>C (LAMB1)
ENST00000474380.2:n.1217G>C (LAMB1)
ENST00000676574.1:c.*318G>C (LAMB1)	ENSP00000503081.1:n.*318G>C
ENST00000676744.1:n.248G>C (LAMB1)
ENST00000676777.1:c.4402G>C (LAMB1)	ENSP00000504756.1:p.Ala1468Pro
ENST00000677101.1:c.*4038G>C (LAMB1)	ENSP00000503156.1:n.*4038G>C
ENST00000677144.1:c.*1221G>C (LAMB1)	ENSP00000503049.1:n.*1221G>C
ENST00000677485.1:n.5626G>C (LAMB1)
ENST00000677588.1:c.*633G>C (LAMB1)	ENSP00000502938.1:n.*633G>C
ENST00000677793.1:c.4090G>C (LAMB1)	ENSP00000504020.1:p.Ala1364Pro
ENST00000677801.1:c.*231G>C (LAMB1)	ENSP00000503438.1:n.*231G>C
ENST00000678232.1:n.4591G>C (LAMB1)
ENST00000678310.1:n.2571G>C (LAMB1)
ENST00000678698.1:c.*474G>C (LAMB1)	ENSP00000503198.1:n.*474G>C
ENST00000678704.1:c.*2984G>C (LAMB1)	ENSP00000504589.1:n.*2984G>C
ENST00000678892.1:c.*474G>C (LAMB1)	ENSP00000504841.1:n.*474G>C
ENST00000679200.1:c.*474G>C (LAMB1)	ENSP00000503498.1:n.*474G>C
ENST00000222399.10:c.4402G>C (LAMB1)	ENSP00000222399.6:p.Ala1468Pro
ENST00000393561.5:c.4474G>C (LAMB1)	ENSP00000377191.1:p.Ala1492Pro
ENST00000417551.5:c.*185C>G (DLD)	ENSP00000390667.1:n.*185C>G
ENST00000468518.1:n.461G>C (LAMB1)
ENST00000474380.1:n.639G>C (LAMB1)
NM_002291.2:c.4402G>C (LAMB1)	NP_002282.2:p.Ala1468Pro
XM_017012201.1:c.4474G>C (LAMB1)	XP_016867690.1:p.Ala1492Pro
XR_001744756.1:n.5321G>C (LAMB1)
NM_002291.3:c.4402G>C (LAMB1) MANE Select	NP_002282.2:p.Ala1468Pro