Canonical Allele Identifier: CA368864205

Gene: LAMB1 DLD

Linked Data

• MyVariant Identifiers: chr7:g.107571910T>G (hg19) ; chr7:g.107931465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931465T>G , CM000669.2:g.107931465T>G	GRCh38
NC_000007.13:g.107571910T>G , CM000669.1:g.107571910T>G	GRCh37
NC_000007.12:g.107359146T>G	NCBI36
NG_023255.1:g.76895A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4428A>C (LAMB1) MANE Select	ENSP00000222399.6:p.Lys1476Asn
ENST00000393561.6:c.4017A>C (LAMB1)	ENSP00000377191.2:p.Lys1339Asn
ENST00000468518.2:n.2662A>C (LAMB1)
ENST00000468999.2:n.2576A>C (LAMB1)
ENST00000474380.2:n.1243A>C (LAMB1)
ENST00000676574.1:c.*344A>C (LAMB1)	ENSP00000503081.1:n.*344A>C
ENST00000676744.1:n.274A>C (LAMB1)
ENST00000676777.1:c.4428A>C (LAMB1)	ENSP00000504756.1:p.Lys1476Asn
ENST00000677101.1:c.*4064A>C (LAMB1)	ENSP00000503156.1:n.*4064A>C
ENST00000677144.1:c.*1247A>C (LAMB1)	ENSP00000503049.1:n.*1247A>C
ENST00000677485.1:n.5652A>C (LAMB1)
ENST00000677588.1:c.*659A>C (LAMB1)	ENSP00000502938.1:n.*659A>C
ENST00000677793.1:c.4116A>C (LAMB1)	ENSP00000504020.1:p.Lys1372Asn
ENST00000677801.1:c.*257A>C (LAMB1)	ENSP00000503438.1:n.*257A>C
ENST00000678232.1:n.4617A>C (LAMB1)
ENST00000678310.1:n.2597A>C (LAMB1)
ENST00000678698.1:c.*500A>C (LAMB1)	ENSP00000503198.1:n.*500A>C
ENST00000678704.1:c.*3010A>C (LAMB1)	ENSP00000504589.1:n.*3010A>C
ENST00000678892.1:c.*500A>C (LAMB1)	ENSP00000504841.1:n.*500A>C
ENST00000679200.1:c.*500A>C (LAMB1)	ENSP00000503498.1:n.*500A>C
ENST00000222399.10:c.4428A>C (LAMB1)	ENSP00000222399.6:p.Lys1476Asn
ENST00000393561.5:c.4500A>C (LAMB1)	ENSP00000377191.1:p.Lys1500Asn
ENST00000417551.5:c.*159T>G (DLD)	ENSP00000390667.1:n.*159T>G
ENST00000468518.1:n.487A>C (LAMB1)
ENST00000474380.1:n.665A>C (LAMB1)
NM_002291.2:c.4428A>C (LAMB1)	NP_002282.2:p.Lys1476Asn
XM_017012201.1:c.4500A>C (LAMB1)	XP_016867690.1:p.Lys1500Asn
XR_001744756.1:n.5347A>C (LAMB1)
NM_002291.3:c.4428A>C (LAMB1) MANE Select	NP_002282.2:p.Lys1476Asn