Canonical Allele Identifier: CA4434790

Linked Data

ClinVar Variation Id: 369575
dbSNP Id: rs3213673

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107924094G>A , CM000669.2:g.107924094G>A GRCh38
NC_000007.13:g.107564539G>A , CM000669.1:g.107564539G>A GRCh37
NC_000007.12:g.107351775G>A NCBI36
NG_023255.1:g.84266C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.5225-7C>T (LAMB1) MANE Select ENSP00000222399.6:n.5225-7C>T
ENST00000393561.6:c.4814-7C>T (LAMB1) ENSP00000377191.2:n.4814-7C>T
ENST00000468518.2:n.3459-7C>T (LAMB1)
ENST00000468999.2:n.3373-7C>T (LAMB1)
ENST00000472714.2:n.696-7C>T (LAMB1)
ENST00000474380.2:n.2040-7C>T (LAMB1)
ENST00000676574.1:c.*1141-7C>T (LAMB1) ENSP00000503081.1:n.*1141-7C>T
ENST00000676744.1:n.1071-7C>T (LAMB1)
ENST00000677101.1:c.*4861-7C>T (LAMB1) ENSP00000503156.1:n.*4861-7C>T
ENST00000677144.1:c.*2044-7C>T (LAMB1) ENSP00000503049.1:n.*2044-7C>T
ENST00000677485.1:n.6449-7C>T (LAMB1)
ENST00000677588.1:c.*1456-7C>T (LAMB1) ENSP00000502938.1:n.*1456-7C>T
ENST00000677793.1:c.4913-7C>T (LAMB1) ENSP00000504020.1:n.4913-7C>T
ENST00000677801.1:c.*1054-7C>T (LAMB1) ENSP00000503438.1:n.*1054-7C>T
ENST00000677957.1:n.2624-7C>T (LAMB1)
ENST00000678310.1:n.3394-7C>T (LAMB1)
ENST00000678698.1:c.*1297-7C>T (LAMB1) ENSP00000503198.1:n.*1297-7C>T
ENST00000678704.1:c.*3807-7C>T (LAMB1) ENSP00000504589.1:n.*3807-7C>T
ENST00000678892.1:c.*1297-7C>T (LAMB1) ENSP00000504841.1:n.*1297-7C>T
ENST00000678984.1:n.4121-7C>T (LAMB1)
ENST00000679200.1:c.*1297-7C>T (LAMB1) ENSP00000503498.1:n.*1297-7C>T
ENST00000222399.10:c.5225-7C>T (LAMB1) ENSP00000222399.6:n.5225-7C>T
ENST00000393561.5:c.5297-7C>T (LAMB1) ENSP00000377191.1:n.5297-7C>T
ENST00000417551.5:c.*124+4711G>A (DLD) ENSP00000390667.1:n.*124+4711G>A
ENST00000472714.1:n.1252-7C>T (LAMB1)
NM_002291.2:c.5225-7C>T (LAMB1) NP_002282.2:n.5225-7C>T
XM_017012201.1:c.5297-7C>T (LAMB1) XP_016867690.1:n.5297-7C>T
XR_001744756.1:n.6144-7C>T (LAMB1)
NM_002291.3:c.5225-7C>T (LAMB1) MANE Select NP_002282.2:n.5225-7C>T