Canonical Allele Identifier: CA4435023

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs540315337
• ExAC: 7:107571862 T / C
• gnomAD v2: 7-107571862-T-C
• gnomAD v3: 7-107931417-T-C
• gnomAD v4: 7-107931417-T-C
• MyVariant Identifiers: chr7:g.107571862T>C (hg19) ; chr7:g.107931417T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931417T>C , CM000669.2:g.107931417T>C	GRCh38
NC_000007.13:g.107571862T>C , CM000669.1:g.107571862T>C	GRCh37
NC_000007.12:g.107359098T>C	NCBI36
NG_023255.1:g.76943A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4476A>G (LAMB1) MANE Select	ENSP00000222399.6:p.Lys1492=
ENST00000393561.6:c.4065A>G (LAMB1)	ENSP00000377191.2:p.Lys1355=
ENST00000468518.2:n.2710A>G (LAMB1)
ENST00000468999.2:n.2624A>G (LAMB1)
ENST00000474380.2:n.1291A>G (LAMB1)
ENST00000676574.1:c.*392A>G (LAMB1)	ENSP00000503081.1:n.*392A>G
ENST00000676744.1:n.322A>G (LAMB1)
ENST00000676777.1:c.4476A>G (LAMB1)	ENSP00000504756.1:p.Lys1492=
ENST00000677101.1:c.*4112A>G (LAMB1)	ENSP00000503156.1:n.*4112A>G
ENST00000677144.1:c.*1295A>G (LAMB1)	ENSP00000503049.1:n.*1295A>G
ENST00000677485.1:n.5700A>G (LAMB1)
ENST00000677588.1:c.*707A>G (LAMB1)	ENSP00000502938.1:n.*707A>G
ENST00000677793.1:c.4164A>G (LAMB1)	ENSP00000504020.1:p.Lys1388=
ENST00000677801.1:c.*305A>G (LAMB1)	ENSP00000503438.1:n.*305A>G
ENST00000678232.1:n.4665A>G (LAMB1)
ENST00000678310.1:n.2645A>G (LAMB1)
ENST00000678698.1:c.*548A>G (LAMB1)	ENSP00000503198.1:n.*548A>G
ENST00000678704.1:c.*3058A>G (LAMB1)	ENSP00000504589.1:n.*3058A>G
ENST00000678892.1:c.*548A>G (LAMB1)	ENSP00000504841.1:n.*548A>G
ENST00000679200.1:c.*548A>G (LAMB1)	ENSP00000503498.1:n.*548A>G
ENST00000222399.10:c.4476A>G (LAMB1)	ENSP00000222399.6:p.Lys1492=
ENST00000393561.5:c.4548A>G (LAMB1)	ENSP00000377191.1:p.Lys1516=
ENST00000417551.5:c.*125-14T>C (DLD)	ENSP00000390667.1:n.*125-14T>C
ENST00000468518.1:n.535A>G (LAMB1)
ENST00000474380.1:n.713A>G (LAMB1)
NM_002291.2:c.4476A>G (LAMB1)	NP_002282.2:p.Lys1492=
XM_017012201.1:c.4548A>G (LAMB1)	XP_016867690.1:p.Lys1516=
XR_001744756.1:n.5395A>G (LAMB1)
NM_002291.3:c.4476A>G (LAMB1) MANE Select	NP_002282.2:p.Lys1492=