Canonical Allele Identifier: CA368864003

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571862T>A (hg19) ; chr7:g.107931417T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4476A>T (LAMB1) MANE Select	ENSP00000222399.6:p.Lys1492Asn
ENST00000393561.6:c.4065A>T (LAMB1)	ENSP00000377191.2:p.Lys1355Asn
ENST00000468518.2:n.2710A>T (LAMB1)
ENST00000468999.2:n.2624A>T (LAMB1)
ENST00000474380.2:n.1291A>T (LAMB1)
ENST00000676574.1:c.*392A>T (LAMB1)	ENSP00000503081.1:n.*392A>T
ENST00000676744.1:n.322A>T (LAMB1)
ENST00000676777.1:c.4476A>T (LAMB1)	ENSP00000504756.1:p.Lys1492Asn
ENST00000677101.1:c.*4112A>T (LAMB1)	ENSP00000503156.1:n.*4112A>T
ENST00000677144.1:c.*1295A>T (LAMB1)	ENSP00000503049.1:n.*1295A>T
ENST00000677485.1:n.5700A>T (LAMB1)
ENST00000677588.1:c.*707A>T (LAMB1)	ENSP00000502938.1:n.*707A>T
ENST00000677793.1:c.4164A>T (LAMB1)	ENSP00000504020.1:p.Lys1388Asn
ENST00000677801.1:c.*305A>T (LAMB1)	ENSP00000503438.1:n.*305A>T
ENST00000678232.1:n.4665A>T (LAMB1)
ENST00000678310.1:n.2645A>T (LAMB1)
ENST00000678698.1:c.*548A>T (LAMB1)	ENSP00000503198.1:n.*548A>T
ENST00000678704.1:c.*3058A>T (LAMB1)	ENSP00000504589.1:n.*3058A>T
ENST00000678892.1:c.*548A>T (LAMB1)	ENSP00000504841.1:n.*548A>T
ENST00000679200.1:c.*548A>T (LAMB1)	ENSP00000503498.1:n.*548A>T
ENST00000222399.10:c.4476A>T (LAMB1)	ENSP00000222399.6:p.Lys1492Asn
ENST00000393561.5:c.4548A>T (LAMB1)	ENSP00000377191.1:p.Lys1516Asn
ENST00000417551.5:c.*125-14T>A (DLD)	ENSP00000390667.1:n.*125-14T>A
ENST00000468518.1:n.535A>T (LAMB1)
ENST00000474380.1:n.713A>T (LAMB1)
NM_002291.2:c.4476A>T (LAMB1)	NP_002282.2:p.Lys1492Asn
XM_017012201.1:c.4548A>T (LAMB1)	XP_016867690.1:p.Lys1516Asn
XR_001744756.1:n.5395A>T (LAMB1)
NM_002291.3:c.4476A>T (LAMB1) MANE Select	NP_002282.2:p.Lys1492Asn