Canonical Allele Identifier: CA368864336

Gene: LAMB1 DLD

Linked Data

• ClinVar Variation Id: 2705614
• ClinVar RCV Id: RCV003575514
• MyVariant Identifiers: chr7:g.107571944A>C (hg19) ; chr7:g.107931499A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931499A>C , CM000669.2:g.107931499A>C	GRCh38
NC_000007.13:g.107571944A>C , CM000669.1:g.107571944A>C	GRCh37
NC_000007.12:g.107359180A>C	NCBI36
NG_023255.1:g.76861T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4394T>G (LAMB1) MANE Select	ENSP00000222399.6:p.Val1465Gly
ENST00000393561.6:c.3983T>G (LAMB1)	ENSP00000377191.2:p.Val1328Gly
ENST00000468518.2:n.2628T>G (LAMB1)
ENST00000468999.2:n.2542T>G (LAMB1)
ENST00000474380.2:n.1209T>G (LAMB1)
ENST00000676574.1:c.*310T>G (LAMB1)	ENSP00000503081.1:n.*310T>G
ENST00000676744.1:n.240T>G (LAMB1)
ENST00000676777.1:c.4394T>G (LAMB1)	ENSP00000504756.1:p.Val1465Gly
ENST00000677101.1:c.*4030T>G (LAMB1)	ENSP00000503156.1:n.*4030T>G
ENST00000677144.1:c.*1213T>G (LAMB1)	ENSP00000503049.1:n.*1213T>G
ENST00000677485.1:n.5618T>G (LAMB1)
ENST00000677588.1:c.*625T>G (LAMB1)	ENSP00000502938.1:n.*625T>G
ENST00000677793.1:c.4082T>G (LAMB1)	ENSP00000504020.1:p.Val1361Gly
ENST00000677801.1:c.*223T>G (LAMB1)	ENSP00000503438.1:n.*223T>G
ENST00000678232.1:n.4583T>G (LAMB1)
ENST00000678310.1:n.2563T>G (LAMB1)
ENST00000678698.1:c.*466T>G (LAMB1)	ENSP00000503198.1:n.*466T>G
ENST00000678704.1:c.*2976T>G (LAMB1)	ENSP00000504589.1:n.*2976T>G
ENST00000678892.1:c.*466T>G (LAMB1)	ENSP00000504841.1:n.*466T>G
ENST00000679200.1:c.*466T>G (LAMB1)	ENSP00000503498.1:n.*466T>G
ENST00000222399.10:c.4394T>G (LAMB1)	ENSP00000222399.6:p.Val1465Gly
ENST00000393561.5:c.4466T>G (LAMB1)	ENSP00000377191.1:p.Val1489Gly
ENST00000417551.5:c.*193A>C (DLD)	ENSP00000390667.1:n.*193A>C
ENST00000468518.1:n.453T>G (LAMB1)
ENST00000474380.1:n.631T>G (LAMB1)
NM_002291.2:c.4394T>G (LAMB1)	NP_002282.2:p.Val1465Gly
XM_017012201.1:c.4466T>G (LAMB1)	XP_016867690.1:p.Val1489Gly
XR_001744756.1:n.5313T>G (LAMB1)
NM_002291.3:c.4394T>G (LAMB1) MANE Select	NP_002282.2:p.Val1465Gly