Canonical Allele Identifier: CA457111275

Linked Data

MyVariant Identifiers: chr7:g.107571934T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931489T>A , CM000669.2:g.107931489T>A GRCh38
NC_000007.13:g.107571934T>A , CM000669.1:g.107571934T>A GRCh37
NC_000007.12:g.107359170T>A NCBI36
NG_023255.1:g.76871A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4404A>T (LAMB1) MANE Select ENSP00000222399.6:p.Ala1468=
ENST00000393561.6:c.3993A>T (LAMB1) ENSP00000377191.2:p.Ala1331=
ENST00000468518.2:n.2638A>T (LAMB1)
ENST00000468999.2:n.2552A>T (LAMB1)
ENST00000474380.2:n.1219A>T (LAMB1)
ENST00000676574.1:c.*320A>T (LAMB1) ENSP00000503081.1:n.*320A>T
ENST00000676744.1:n.250A>T (LAMB1)
ENST00000676777.1:c.4404A>T (LAMB1) ENSP00000504756.1:p.Ala1468=
ENST00000677101.1:c.*4040A>T (LAMB1) ENSP00000503156.1:n.*4040A>T
ENST00000677144.1:c.*1223A>T (LAMB1) ENSP00000503049.1:n.*1223A>T
ENST00000677485.1:n.5628A>T (LAMB1)
ENST00000677588.1:c.*635A>T (LAMB1) ENSP00000502938.1:n.*635A>T
ENST00000677793.1:c.4092A>T (LAMB1) ENSP00000504020.1:p.Ala1364=
ENST00000677801.1:c.*233A>T (LAMB1) ENSP00000503438.1:n.*233A>T
ENST00000678232.1:n.4593A>T (LAMB1)
ENST00000678310.1:n.2573A>T (LAMB1)
ENST00000678698.1:c.*476A>T (LAMB1) ENSP00000503198.1:n.*476A>T
ENST00000678704.1:c.*2986A>T (LAMB1) ENSP00000504589.1:n.*2986A>T
ENST00000678892.1:c.*476A>T (LAMB1) ENSP00000504841.1:n.*476A>T
ENST00000679200.1:c.*476A>T (LAMB1) ENSP00000503498.1:n.*476A>T
ENST00000222399.10:c.4404A>T (LAMB1) ENSP00000222399.6:p.Ala1468=
ENST00000393561.5:c.4476A>T (LAMB1) ENSP00000377191.1:p.Ala1492=
ENST00000417551.5:c.*183T>A (DLD) ENSP00000390667.1:n.*183T>A
ENST00000468518.1:n.463A>T (LAMB1)
ENST00000474380.1:n.641A>T (LAMB1)
NM_002291.2:c.4404A>T (LAMB1) NP_002282.2:p.Ala1468=
XM_017012201.1:c.4476A>T (LAMB1) XP_016867690.1:p.Ala1492=
XR_001744756.1:n.5323A>T (LAMB1)
NM_002291.3:c.4404A>T (LAMB1) MANE Select NP_002282.2:p.Ala1468=