Canonical Allele Identifier: CA368864326

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571941G>C (hg19) ; chr7:g.107931496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931496G>C , CM000669.2:g.107931496G>C	GRCh38
NC_000007.13:g.107571941G>C , CM000669.1:g.107571941G>C	GRCh37
NC_000007.12:g.107359177G>C	NCBI36
NG_023255.1:g.76864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4397C>G (LAMB1) MANE Select	ENSP00000222399.6:p.Ser1466Cys
ENST00000393561.6:c.3986C>G (LAMB1)	ENSP00000377191.2:p.Ser1329Cys
ENST00000468518.2:n.2631C>G (LAMB1)
ENST00000468999.2:n.2545C>G (LAMB1)
ENST00000474380.2:n.1212C>G (LAMB1)
ENST00000676574.1:c.*313C>G (LAMB1)	ENSP00000503081.1:n.*313C>G
ENST00000676744.1:n.243C>G (LAMB1)
ENST00000676777.1:c.4397C>G (LAMB1)	ENSP00000504756.1:p.Ser1466Cys
ENST00000677101.1:c.*4033C>G (LAMB1)	ENSP00000503156.1:n.*4033C>G
ENST00000677144.1:c.*1216C>G (LAMB1)	ENSP00000503049.1:n.*1216C>G
ENST00000677485.1:n.5621C>G (LAMB1)
ENST00000677588.1:c.*628C>G (LAMB1)	ENSP00000502938.1:n.*628C>G
ENST00000677793.1:c.4085C>G (LAMB1)	ENSP00000504020.1:p.Ser1362Cys
ENST00000677801.1:c.*226C>G (LAMB1)	ENSP00000503438.1:n.*226C>G
ENST00000678232.1:n.4586C>G (LAMB1)
ENST00000678310.1:n.2566C>G (LAMB1)
ENST00000678698.1:c.*469C>G (LAMB1)	ENSP00000503198.1:n.*469C>G
ENST00000678704.1:c.*2979C>G (LAMB1)	ENSP00000504589.1:n.*2979C>G
ENST00000678892.1:c.*469C>G (LAMB1)	ENSP00000504841.1:n.*469C>G
ENST00000679200.1:c.*469C>G (LAMB1)	ENSP00000503498.1:n.*469C>G
ENST00000222399.10:c.4397C>G (LAMB1)	ENSP00000222399.6:p.Ser1466Cys
ENST00000393561.5:c.4469C>G (LAMB1)	ENSP00000377191.1:p.Ser1490Cys
ENST00000417551.5:c.*190G>C (DLD)	ENSP00000390667.1:n.*190G>C
ENST00000468518.1:n.456C>G (LAMB1)
ENST00000474380.1:n.634C>G (LAMB1)
NM_002291.2:c.4397C>G (LAMB1)	NP_002282.2:p.Ser1466Cys
XM_017012201.1:c.4469C>G (LAMB1)	XP_016867690.1:p.Ser1490Cys
XR_001744756.1:n.5316C>G (LAMB1)
NM_002291.3:c.4397C>G (LAMB1) MANE Select	NP_002282.2:p.Ser1466Cys