Canonical Allele Identifier: CA368864011

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571863T>G (hg19) ; chr7:g.107931418T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931418T>G , CM000669.2:g.107931418T>G	GRCh38
NC_000007.13:g.107571863T>G , CM000669.1:g.107571863T>G	GRCh37
NC_000007.12:g.107359099T>G	NCBI36
NG_023255.1:g.76942A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4475A>C (LAMB1) MANE Select	ENSP00000222399.6:p.Lys1492Thr
ENST00000393561.6:c.4064A>C (LAMB1)	ENSP00000377191.2:p.Lys1355Thr
ENST00000468518.2:n.2709A>C (LAMB1)
ENST00000468999.2:n.2623A>C (LAMB1)
ENST00000474380.2:n.1290A>C (LAMB1)
ENST00000676574.1:c.*391A>C (LAMB1)	ENSP00000503081.1:n.*391A>C
ENST00000676744.1:n.321A>C (LAMB1)
ENST00000676777.1:c.4475A>C (LAMB1)	ENSP00000504756.1:p.Lys1492Thr
ENST00000677101.1:c.*4111A>C (LAMB1)	ENSP00000503156.1:n.*4111A>C
ENST00000677144.1:c.*1294A>C (LAMB1)	ENSP00000503049.1:n.*1294A>C
ENST00000677485.1:n.5699A>C (LAMB1)
ENST00000677588.1:c.*706A>C (LAMB1)	ENSP00000502938.1:n.*706A>C
ENST00000677793.1:c.4163A>C (LAMB1)	ENSP00000504020.1:p.Lys1388Thr
ENST00000677801.1:c.*304A>C (LAMB1)	ENSP00000503438.1:n.*304A>C
ENST00000678232.1:n.4664A>C (LAMB1)
ENST00000678310.1:n.2644A>C (LAMB1)
ENST00000678698.1:c.*547A>C (LAMB1)	ENSP00000503198.1:n.*547A>C
ENST00000678704.1:c.*3057A>C (LAMB1)	ENSP00000504589.1:n.*3057A>C
ENST00000678892.1:c.*547A>C (LAMB1)	ENSP00000504841.1:n.*547A>C
ENST00000679200.1:c.*547A>C (LAMB1)	ENSP00000503498.1:n.*547A>C
ENST00000222399.10:c.4475A>C (LAMB1)	ENSP00000222399.6:p.Lys1492Thr
ENST00000393561.5:c.4547A>C (LAMB1)	ENSP00000377191.1:p.Lys1516Thr
ENST00000417551.5:c.*125-13T>G (DLD)	ENSP00000390667.1:n.*125-13T>G
ENST00000468518.1:n.534A>C (LAMB1)
ENST00000474380.1:n.712A>C (LAMB1)
NM_002291.2:c.4475A>C (LAMB1)	NP_002282.2:p.Lys1492Thr
XM_017012201.1:c.4547A>C (LAMB1)	XP_016867690.1:p.Lys1516Thr
XR_001744756.1:n.5394A>C (LAMB1)
NM_002291.3:c.4475A>C (LAMB1) MANE Select	NP_002282.2:p.Lys1492Thr