Canonical Allele Identifier: CA368869552
Gene: LAMB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107961205C>T , CM000669.2:g.107961205C>T GRCh38
NC_000007.13:g.107601650C>T , CM000669.1:g.107601650C>T GRCh37
NC_000007.12:g.107388886C>T NCBI36
NG_023255.1:g.47155G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.2109+1G>A MANE Select ENSP00000222399.6:n.2109+1G>A
ENST00000393561.6:c.1698+1G>A ENSP00000377191.2:n.1698+1G>A
ENST00000676574.1:c.2109+1G>A ENSP00000503081.1:n.2109+1G>A
ENST00000676777.1:c.2109+1G>A ENSP00000504756.1:n.2109+1G>A
ENST00000676920.1:c.1698+1G>A ENSP00000503814.1:n.1698+1G>A
ENST00000677101.1:c.*1745+1G>A ENSP00000503156.1:n.*1745+1G>A
ENST00000677144.1:c.2109+1G>A ENSP00000503049.1:n.2109+1G>A
ENST00000677485.1:n.3333+1G>A
ENST00000677588.1:c.2109+1G>A ENSP00000502938.1:n.2109+1G>A
ENST00000677652.1:n.2298+1G>A
ENST00000677734.1:n.2298+1G>A
ENST00000677793.1:c.2109+1G>A ENSP00000504020.1:n.2109+1G>A
ENST00000677801.1:c.1698+1G>A ENSP00000503438.1:n.1698+1G>A
ENST00000677994.1:n.2275+1G>A
ENST00000678232.1:n.2298+1G>A
ENST00000678266.1:n.2251+1G>A
ENST00000678346.1:c.*1745+1G>A ENSP00000504349.1:n.*1745+1G>A
ENST00000678698.1:c.1698+1G>A ENSP00000503198.1:n.1698+1G>A
ENST00000678704.1:c.*691+1G>A ENSP00000504589.1:n.*691+1G>A
ENST00000678892.1:c.2109+1G>A ENSP00000504841.1:n.2109+1G>A
ENST00000679173.1:n.2298+1G>A
ENST00000679200.1:c.1698+1G>A ENSP00000503498.1:n.1698+1G>A
ENST00000679244.1:c.2109+1G>A ENSP00000504656.1:n.2109+1G>A
ENST00000222399.10:c.2109+1G>A ENSP00000222399.6:n.2109+1G>A
ENST00000393560.5:c.2109+1G>A ENSP00000377190.1:n.2109+1G>A
ENST00000393561.5:c.2181+1G>A ENSP00000377191.1:n.2181+1G>A
NM_002291.2:c.2109+1G>A NP_002282.2:n.2109+1G>A
XM_011516203.1:c.2109+1G>A XP_011514505.1:n.2109+1G>A
XM_017012201.1:c.2181+1G>A XP_016867690.1:n.2181+1G>A
XM_017012202.1:c.2181+1G>A XP_016867691.1:n.2181+1G>A
XR_001744756.1:n.2912+1G>A
NM_002291.3:c.2109+1G>A MANE Select NP_002282.2:n.2109+1G>A
Search 100 bp 5'
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