Canonical Allele Identifier: CA368864076

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571878T>G (hg19) ; chr7:g.107931433T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931433T>G , CM000669.2:g.107931433T>G	GRCh38
NC_000007.13:g.107571878T>G , CM000669.1:g.107571878T>G	GRCh37
NC_000007.12:g.107359114T>G	NCBI36
NG_023255.1:g.76927A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4460A>C (LAMB1) MANE Select	ENSP00000222399.6:p.Asn1487Thr
ENST00000393561.6:c.4049A>C (LAMB1)	ENSP00000377191.2:p.Asn1350Thr
ENST00000468518.2:n.2694A>C (LAMB1)
ENST00000468999.2:n.2608A>C (LAMB1)
ENST00000474380.2:n.1275A>C (LAMB1)
ENST00000676574.1:c.*376A>C (LAMB1)	ENSP00000503081.1:n.*376A>C
ENST00000676744.1:n.306A>C (LAMB1)
ENST00000676777.1:c.4460A>C (LAMB1)	ENSP00000504756.1:p.Asn1487Thr
ENST00000677101.1:c.*4096A>C (LAMB1)	ENSP00000503156.1:n.*4096A>C
ENST00000677144.1:c.*1279A>C (LAMB1)	ENSP00000503049.1:n.*1279A>C
ENST00000677485.1:n.5684A>C (LAMB1)
ENST00000677588.1:c.*691A>C (LAMB1)	ENSP00000502938.1:n.*691A>C
ENST00000677793.1:c.4148A>C (LAMB1)	ENSP00000504020.1:p.Asn1383Thr
ENST00000677801.1:c.*289A>C (LAMB1)	ENSP00000503438.1:n.*289A>C
ENST00000678232.1:n.4649A>C (LAMB1)
ENST00000678310.1:n.2629A>C (LAMB1)
ENST00000678698.1:c.*532A>C (LAMB1)	ENSP00000503198.1:n.*532A>C
ENST00000678704.1:c.*3042A>C (LAMB1)	ENSP00000504589.1:n.*3042A>C
ENST00000678892.1:c.*532A>C (LAMB1)	ENSP00000504841.1:n.*532A>C
ENST00000679200.1:c.*532A>C (LAMB1)	ENSP00000503498.1:n.*532A>C
ENST00000222399.10:c.4460A>C (LAMB1)	ENSP00000222399.6:p.Asn1487Thr
ENST00000393561.5:c.4532A>C (LAMB1)	ENSP00000377191.1:p.Asn1511Thr
ENST00000417551.5:c.*127T>G (DLD)	ENSP00000390667.1:n.*127T>G
ENST00000468518.1:n.519A>C (LAMB1)
ENST00000474380.1:n.697A>C (LAMB1)
NM_002291.2:c.4460A>C (LAMB1)	NP_002282.2:p.Asn1487Thr
XM_017012201.1:c.4532A>C (LAMB1)	XP_016867690.1:p.Asn1511Thr
XR_001744756.1:n.5379A>C (LAMB1)
NM_002291.3:c.4460A>C (LAMB1) MANE Select	NP_002282.2:p.Asn1487Thr