Canonical Allele Identifier: CA457111281

Linked Data

MyVariant Identifiers: chr7:g.107571943G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931498G>A , CM000669.2:g.107931498G>A GRCh38
NC_000007.13:g.107571943G>A , CM000669.1:g.107571943G>A GRCh37
NC_000007.12:g.107359179G>A NCBI36
NG_023255.1:g.76862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4395C>T (LAMB1) MANE Select ENSP00000222399.6:p.Val1465=
ENST00000393561.6:c.3984C>T (LAMB1) ENSP00000377191.2:p.Val1328=
ENST00000468518.2:n.2629C>T (LAMB1)
ENST00000468999.2:n.2543C>T (LAMB1)
ENST00000474380.2:n.1210C>T (LAMB1)
ENST00000676574.1:c.*311C>T (LAMB1) ENSP00000503081.1:n.*311C>T
ENST00000676744.1:n.241C>T (LAMB1)
ENST00000676777.1:c.4395C>T (LAMB1) ENSP00000504756.1:p.Val1465=
ENST00000677101.1:c.*4031C>T (LAMB1) ENSP00000503156.1:n.*4031C>T
ENST00000677144.1:c.*1214C>T (LAMB1) ENSP00000503049.1:n.*1214C>T
ENST00000677485.1:n.5619C>T (LAMB1)
ENST00000677588.1:c.*626C>T (LAMB1) ENSP00000502938.1:n.*626C>T
ENST00000677793.1:c.4083C>T (LAMB1) ENSP00000504020.1:p.Val1361=
ENST00000677801.1:c.*224C>T (LAMB1) ENSP00000503438.1:n.*224C>T
ENST00000678232.1:n.4584C>T (LAMB1)
ENST00000678310.1:n.2564C>T (LAMB1)
ENST00000678698.1:c.*467C>T (LAMB1) ENSP00000503198.1:n.*467C>T
ENST00000678704.1:c.*2977C>T (LAMB1) ENSP00000504589.1:n.*2977C>T
ENST00000678892.1:c.*467C>T (LAMB1) ENSP00000504841.1:n.*467C>T
ENST00000679200.1:c.*467C>T (LAMB1) ENSP00000503498.1:n.*467C>T
ENST00000222399.10:c.4395C>T (LAMB1) ENSP00000222399.6:p.Val1465=
ENST00000393561.5:c.4467C>T (LAMB1) ENSP00000377191.1:p.Val1489=
ENST00000417551.5:c.*192G>A (DLD) ENSP00000390667.1:n.*192G>A
ENST00000468518.1:n.454C>T (LAMB1)
ENST00000474380.1:n.632C>T (LAMB1)
NM_002291.2:c.4395C>T (LAMB1) NP_002282.2:p.Val1465=
XM_017012201.1:c.4467C>T (LAMB1) XP_016867690.1:p.Val1489=
XR_001744756.1:n.5314C>T (LAMB1)
NM_002291.3:c.4395C>T (LAMB1) MANE Select NP_002282.2:p.Val1465=