Canonical Allele Identifier: CA368863978

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs1215861348
• gnomAD v2: 7-107571856-G-C
• gnomAD v4: 7-107931411-G-C
• MyVariant Identifiers: chr7:g.107571856G>C (hg19) ; chr7:g.107931411G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931411G>C , CM000669.2:g.107931411G>C	GRCh38
NC_000007.13:g.107571856G>C , CM000669.1:g.107571856G>C	GRCh37
NC_000007.12:g.107359092G>C	NCBI36
NG_023255.1:g.76949C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4482C>G (LAMB1) MANE Select	ENSP00000222399.6:p.Asp1494Glu
ENST00000393561.6:c.4071C>G (LAMB1)	ENSP00000377191.2:p.Asp1357Glu
ENST00000468518.2:n.2716C>G (LAMB1)
ENST00000468999.2:n.2630C>G (LAMB1)
ENST00000474380.2:n.1297C>G (LAMB1)
ENST00000676574.1:c.*398C>G (LAMB1)	ENSP00000503081.1:n.*398C>G
ENST00000676744.1:n.328C>G (LAMB1)
ENST00000676777.1:c.4482C>G (LAMB1)	ENSP00000504756.1:p.Asp1494Glu
ENST00000677101.1:c.*4118C>G (LAMB1)	ENSP00000503156.1:n.*4118C>G
ENST00000677144.1:c.*1301C>G (LAMB1)	ENSP00000503049.1:n.*1301C>G
ENST00000677485.1:n.5706C>G (LAMB1)
ENST00000677588.1:c.*713C>G (LAMB1)	ENSP00000502938.1:n.*713C>G
ENST00000677793.1:c.4170C>G (LAMB1)	ENSP00000504020.1:p.Asp1390Glu
ENST00000677801.1:c.*311C>G (LAMB1)	ENSP00000503438.1:n.*311C>G
ENST00000678232.1:n.4671C>G (LAMB1)
ENST00000678310.1:n.2651C>G (LAMB1)
ENST00000678698.1:c.*554C>G (LAMB1)	ENSP00000503198.1:n.*554C>G
ENST00000678704.1:c.*3064C>G (LAMB1)	ENSP00000504589.1:n.*3064C>G
ENST00000678892.1:c.*554C>G (LAMB1)	ENSP00000504841.1:n.*554C>G
ENST00000679200.1:c.*554C>G (LAMB1)	ENSP00000503498.1:n.*554C>G
ENST00000222399.10:c.4482C>G (LAMB1)	ENSP00000222399.6:p.Asp1494Glu
ENST00000393561.5:c.4554C>G (LAMB1)	ENSP00000377191.1:p.Asp1518Glu
ENST00000417551.5:c.*125-20G>C (DLD)	ENSP00000390667.1:n.*125-20G>C
ENST00000468518.1:n.541C>G (LAMB1)
ENST00000474380.1:n.719C>G (LAMB1)
NM_002291.2:c.4482C>G (LAMB1)	NP_002282.2:p.Asp1494Glu
XM_017012201.1:c.4554C>G (LAMB1)	XP_016867690.1:p.Asp1518Glu
XR_001744756.1:n.5401C>G (LAMB1)
NM_002291.3:c.4482C>G (LAMB1) MANE Select	NP_002282.2:p.Asp1494Glu