Canonical Allele Identifier: CA457111244

Linked Data

MyVariant Identifiers: chr7:g.107571880T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931435T>C , CM000669.2:g.107931435T>C GRCh38
NC_000007.13:g.107571880T>C , CM000669.1:g.107571880T>C GRCh37
NC_000007.12:g.107359116T>C NCBI36
NG_023255.1:g.76925A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4458A>G (LAMB1) MANE Select ENSP00000222399.6:p.Thr1486=
ENST00000393561.6:c.4047A>G (LAMB1) ENSP00000377191.2:p.Thr1349=
ENST00000468518.2:n.2692A>G (LAMB1)
ENST00000468999.2:n.2606A>G (LAMB1)
ENST00000474380.2:n.1273A>G (LAMB1)
ENST00000676574.1:c.*374A>G (LAMB1) ENSP00000503081.1:n.*374A>G
ENST00000676744.1:n.304A>G (LAMB1)
ENST00000676777.1:c.4458A>G (LAMB1) ENSP00000504756.1:p.Thr1486=
ENST00000677101.1:c.*4094A>G (LAMB1) ENSP00000503156.1:n.*4094A>G
ENST00000677144.1:c.*1277A>G (LAMB1) ENSP00000503049.1:n.*1277A>G
ENST00000677485.1:n.5682A>G (LAMB1)
ENST00000677588.1:c.*689A>G (LAMB1) ENSP00000502938.1:n.*689A>G
ENST00000677793.1:c.4146A>G (LAMB1) ENSP00000504020.1:p.Thr1382=
ENST00000677801.1:c.*287A>G (LAMB1) ENSP00000503438.1:n.*287A>G
ENST00000678232.1:n.4647A>G (LAMB1)
ENST00000678310.1:n.2627A>G (LAMB1)
ENST00000678698.1:c.*530A>G (LAMB1) ENSP00000503198.1:n.*530A>G
ENST00000678704.1:c.*3040A>G (LAMB1) ENSP00000504589.1:n.*3040A>G
ENST00000678892.1:c.*530A>G (LAMB1) ENSP00000504841.1:n.*530A>G
ENST00000679200.1:c.*530A>G (LAMB1) ENSP00000503498.1:n.*530A>G
ENST00000222399.10:c.4458A>G (LAMB1) ENSP00000222399.6:p.Thr1486=
ENST00000393561.5:c.4530A>G (LAMB1) ENSP00000377191.1:p.Thr1510=
ENST00000417551.5:c.*129T>C (DLD) ENSP00000390667.1:n.*129T>C
ENST00000468518.1:n.517A>G (LAMB1)
ENST00000474380.1:n.695A>G (LAMB1)
NM_002291.2:c.4458A>G (LAMB1) NP_002282.2:p.Thr1486=
XM_017012201.1:c.4530A>G (LAMB1) XP_016867690.1:p.Thr1510=
XR_001744756.1:n.5377A>G (LAMB1)
NM_002291.3:c.4458A>G (LAMB1) MANE Select NP_002282.2:p.Thr1486=