Canonical Allele Identifier: CA164268638

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs560218163
• gnomAD v3: 7-107931482-T-C
• gnomAD v4: 7-107931482-T-C
• MyVariant Identifiers: chr7:g.107571927T>C (hg19) ; chr7:g.107931482T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931482T>C , CM000669.2:g.107931482T>C	GRCh38
NC_000007.13:g.107571927T>C , CM000669.1:g.107571927T>C	GRCh37
NC_000007.12:g.107359163T>C	NCBI36
NG_023255.1:g.76878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4411A>G (LAMB1) MANE Select	ENSP00000222399.6:p.Arg1471Gly
ENST00000393561.6:c.4000A>G (LAMB1)	ENSP00000377191.2:p.Arg1334Gly
ENST00000468518.2:n.2645A>G (LAMB1)
ENST00000468999.2:n.2559A>G (LAMB1)
ENST00000474380.2:n.1226A>G (LAMB1)
ENST00000676574.1:c.*327A>G (LAMB1)	ENSP00000503081.1:n.*327A>G
ENST00000676744.1:n.257A>G (LAMB1)
ENST00000676777.1:c.4411A>G (LAMB1)	ENSP00000504756.1:p.Arg1471Gly
ENST00000677101.1:c.*4047A>G (LAMB1)	ENSP00000503156.1:n.*4047A>G
ENST00000677144.1:c.*1230A>G (LAMB1)	ENSP00000503049.1:n.*1230A>G
ENST00000677485.1:n.5635A>G (LAMB1)
ENST00000677588.1:c.*642A>G (LAMB1)	ENSP00000502938.1:n.*642A>G
ENST00000677793.1:c.4099A>G (LAMB1)	ENSP00000504020.1:p.Arg1367Gly
ENST00000677801.1:c.*240A>G (LAMB1)	ENSP00000503438.1:n.*240A>G
ENST00000678232.1:n.4600A>G (LAMB1)
ENST00000678310.1:n.2580A>G (LAMB1)
ENST00000678698.1:c.*483A>G (LAMB1)	ENSP00000503198.1:n.*483A>G
ENST00000678704.1:c.*2993A>G (LAMB1)	ENSP00000504589.1:n.*2993A>G
ENST00000678892.1:c.*483A>G (LAMB1)	ENSP00000504841.1:n.*483A>G
ENST00000679200.1:c.*483A>G (LAMB1)	ENSP00000503498.1:n.*483A>G
ENST00000222399.10:c.4411A>G (LAMB1)	ENSP00000222399.6:p.Arg1471Gly
ENST00000393561.5:c.4483A>G (LAMB1)	ENSP00000377191.1:p.Arg1495Gly
ENST00000417551.5:c.*176T>C (DLD)	ENSP00000390667.1:n.*176T>C
ENST00000468518.1:n.470A>G (LAMB1)
ENST00000474380.1:n.648A>G (LAMB1)
NM_002291.2:c.4411A>G (LAMB1)	NP_002282.2:p.Arg1471Gly
XM_017012201.1:c.4483A>G (LAMB1)	XP_016867690.1:p.Arg1495Gly
XR_001744756.1:n.5330A>G (LAMB1)
NM_002291.3:c.4411A>G (LAMB1) MANE Select	NP_002282.2:p.Arg1471Gly