Canonical Allele Identifier: CA164268550

Gene: LAMB1 DLD

Linked Data

• ClinVar Variation Id: 2018924
• ClinVar RCV Id: RCV002846718
• dbSNP Id: rs143448082
• gnomAD v4: 7-107931386-G-A
• MyVariant Identifiers: chr7:g.107571831G>A (hg19) ; chr7:g.107931386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931386G>A , CM000669.2:g.107931386G>A	GRCh38
NC_000007.13:g.107571831G>A , CM000669.1:g.107571831G>A	GRCh37
NC_000007.12:g.107359067G>A	NCBI36
NG_023255.1:g.76974C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4507C>T (LAMB1) MANE Select	ENSP00000222399.6:p.Leu1503=
ENST00000393561.6:c.4096C>T (LAMB1)	ENSP00000377191.2:p.Leu1366=
ENST00000468518.2:n.2741C>T (LAMB1)
ENST00000468999.2:n.2655C>T (LAMB1)
ENST00000474380.2:n.1322C>T (LAMB1)
ENST00000676574.1:c.*423C>T (LAMB1)	ENSP00000503081.1:n.*423C>T
ENST00000676744.1:n.353C>T (LAMB1)
ENST00000676777.1:c.4507C>T (LAMB1)	ENSP00000504756.1:p.Leu1503=
ENST00000677101.1:c.*4143C>T (LAMB1)	ENSP00000503156.1:n.*4143C>T
ENST00000677144.1:c.*1326C>T (LAMB1)	ENSP00000503049.1:n.*1326C>T
ENST00000677485.1:n.5731C>T (LAMB1)
ENST00000677588.1:c.*738C>T (LAMB1)	ENSP00000502938.1:n.*738C>T
ENST00000677793.1:c.4195C>T (LAMB1)	ENSP00000504020.1:p.Leu1399=
ENST00000677801.1:c.*336C>T (LAMB1)	ENSP00000503438.1:n.*336C>T
ENST00000677883.1:n.18C>T (LAMB1)
ENST00000678232.1:n.4696C>T (LAMB1)
ENST00000678310.1:n.2676C>T (LAMB1)
ENST00000678698.1:c.*579C>T (LAMB1)	ENSP00000503198.1:n.*579C>T
ENST00000678704.1:c.*3089C>T (LAMB1)	ENSP00000504589.1:n.*3089C>T
ENST00000678892.1:c.*579C>T (LAMB1)	ENSP00000504841.1:n.*579C>T
ENST00000679200.1:c.*579C>T (LAMB1)	ENSP00000503498.1:n.*579C>T
ENST00000222399.10:c.4507C>T (LAMB1)	ENSP00000222399.6:p.Leu1503=
ENST00000393561.5:c.4579C>T (LAMB1)	ENSP00000377191.1:p.Leu1527=
ENST00000417551.5:c.*125-45G>A (DLD)	ENSP00000390667.1:n.*125-45G>A
ENST00000468518.1:n.566C>T (LAMB1)
ENST00000474380.1:n.744C>T (LAMB1)
NM_002291.2:c.4507C>T (LAMB1)	NP_002282.2:p.Leu1503=
XM_017012201.1:c.4579C>T (LAMB1)	XP_016867690.1:p.Leu1527=
XR_001744756.1:n.5426C>T (LAMB1)
NM_002291.3:c.4507C>T (LAMB1) MANE Select	NP_002282.2:p.Leu1503=