Canonical Allele Identifier: CA368864329

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571942A>G (hg19) ; chr7:g.107931497A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931497A>G , CM000669.2:g.107931497A>G	GRCh38
NC_000007.13:g.107571942A>G , CM000669.1:g.107571942A>G	GRCh37
NC_000007.12:g.107359178A>G	NCBI36
NG_023255.1:g.76863T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4396T>C (LAMB1) MANE Select	ENSP00000222399.6:p.Ser1466Pro
ENST00000393561.6:c.3985T>C (LAMB1)	ENSP00000377191.2:p.Ser1329Pro
ENST00000468518.2:n.2630T>C (LAMB1)
ENST00000468999.2:n.2544T>C (LAMB1)
ENST00000474380.2:n.1211T>C (LAMB1)
ENST00000676574.1:c.*312T>C (LAMB1)	ENSP00000503081.1:n.*312T>C
ENST00000676744.1:n.242T>C (LAMB1)
ENST00000676777.1:c.4396T>C (LAMB1)	ENSP00000504756.1:p.Ser1466Pro
ENST00000677101.1:c.*4032T>C (LAMB1)	ENSP00000503156.1:n.*4032T>C
ENST00000677144.1:c.*1215T>C (LAMB1)	ENSP00000503049.1:n.*1215T>C
ENST00000677485.1:n.5620T>C (LAMB1)
ENST00000677588.1:c.*627T>C (LAMB1)	ENSP00000502938.1:n.*627T>C
ENST00000677793.1:c.4084T>C (LAMB1)	ENSP00000504020.1:p.Ser1362Pro
ENST00000677801.1:c.*225T>C (LAMB1)	ENSP00000503438.1:n.*225T>C
ENST00000678232.1:n.4585T>C (LAMB1)
ENST00000678310.1:n.2565T>C (LAMB1)
ENST00000678698.1:c.*468T>C (LAMB1)	ENSP00000503198.1:n.*468T>C
ENST00000678704.1:c.*2978T>C (LAMB1)	ENSP00000504589.1:n.*2978T>C
ENST00000678892.1:c.*468T>C (LAMB1)	ENSP00000504841.1:n.*468T>C
ENST00000679200.1:c.*468T>C (LAMB1)	ENSP00000503498.1:n.*468T>C
ENST00000222399.10:c.4396T>C (LAMB1)	ENSP00000222399.6:p.Ser1466Pro
ENST00000393561.5:c.4468T>C (LAMB1)	ENSP00000377191.1:p.Ser1490Pro
ENST00000417551.5:c.*191A>G (DLD)	ENSP00000390667.1:n.*191A>G
ENST00000468518.1:n.455T>C (LAMB1)
ENST00000474380.1:n.633T>C (LAMB1)
NM_002291.2:c.4396T>C (LAMB1)	NP_002282.2:p.Ser1466Pro
XM_017012201.1:c.4468T>C (LAMB1)	XP_016867690.1:p.Ser1490Pro
XR_001744756.1:n.5315T>C (LAMB1)
NM_002291.3:c.4396T>C (LAMB1) MANE Select	NP_002282.2:p.Ser1466Pro