Canonical Allele Identifier: CA368863878

Gene: LAMB1 DLD

Linked Data

• ClinVar Variation Id: 1525228
• ClinVar RCV Id: RCV002032298
• dbSNP Id: rs2116325301
• MyVariant Identifiers: chr7:g.107571833T>C (hg19) ; chr7:g.107931388T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931388T>C , CM000669.2:g.107931388T>C	GRCh38
NC_000007.13:g.107571833T>C , CM000669.1:g.107571833T>C	GRCh37
NC_000007.12:g.107359069T>C	NCBI36
NG_023255.1:g.76972A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4505A>G (LAMB1) MANE Select	ENSP00000222399.6:p.Asn1502Ser
ENST00000393561.6:c.4094A>G (LAMB1)	ENSP00000377191.2:p.Asn1365Ser
ENST00000468518.2:n.2739A>G (LAMB1)
ENST00000468999.2:n.2653A>G (LAMB1)
ENST00000474380.2:n.1320A>G (LAMB1)
ENST00000676574.1:c.*421A>G (LAMB1)	ENSP00000503081.1:n.*421A>G
ENST00000676744.1:n.351A>G (LAMB1)
ENST00000676777.1:c.4505A>G (LAMB1)	ENSP00000504756.1:p.Asn1502Ser
ENST00000677101.1:c.*4141A>G (LAMB1)	ENSP00000503156.1:n.*4141A>G
ENST00000677144.1:c.*1324A>G (LAMB1)	ENSP00000503049.1:n.*1324A>G
ENST00000677485.1:n.5729A>G (LAMB1)
ENST00000677588.1:c.*736A>G (LAMB1)	ENSP00000502938.1:n.*736A>G
ENST00000677793.1:c.4193A>G (LAMB1)	ENSP00000504020.1:p.Asn1398Ser
ENST00000677801.1:c.*334A>G (LAMB1)	ENSP00000503438.1:n.*334A>G
ENST00000677883.1:n.16A>G (LAMB1)
ENST00000678232.1:n.4694A>G (LAMB1)
ENST00000678310.1:n.2674A>G (LAMB1)
ENST00000678698.1:c.*577A>G (LAMB1)	ENSP00000503198.1:n.*577A>G
ENST00000678704.1:c.*3087A>G (LAMB1)	ENSP00000504589.1:n.*3087A>G
ENST00000678892.1:c.*577A>G (LAMB1)	ENSP00000504841.1:n.*577A>G
ENST00000679200.1:c.*577A>G (LAMB1)	ENSP00000503498.1:n.*577A>G
ENST00000222399.10:c.4505A>G (LAMB1)	ENSP00000222399.6:p.Asn1502Ser
ENST00000393561.5:c.4577A>G (LAMB1)	ENSP00000377191.1:p.Asn1526Ser
ENST00000417551.5:c.*125-43T>C (DLD)	ENSP00000390667.1:n.*125-43T>C
ENST00000468518.1:n.564A>G (LAMB1)
ENST00000474380.1:n.742A>G (LAMB1)
NM_002291.2:c.4505A>G (LAMB1)	NP_002282.2:p.Asn1502Ser
XM_017012201.1:c.4577A>G (LAMB1)	XP_016867690.1:p.Asn1526Ser
XR_001744756.1:n.5424A>G (LAMB1)
NM_002291.3:c.4505A>G (LAMB1) MANE Select	NP_002282.2:p.Asn1502Ser