Canonical Allele Identifier: CA368860512

Gene: LAMB1 DLD

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107924291C>T , CM000669.2:g.107924291C>T	GRCh38
NC_000007.13:g.107564736C>T , CM000669.1:g.107564736C>T	GRCh37
NC_000007.12:g.107351972C>T	NCBI36
NG_023255.1:g.84069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.5163G>A (LAMB1) MANE Select	ENSP00000222399.6:p.Met1721Ile
ENST00000393561.6:c.4752G>A (LAMB1)	ENSP00000377191.2:p.Met1584Ile
ENST00000468518.2:n.3397G>A (LAMB1)
ENST00000468999.2:n.3311G>A (LAMB1)
ENST00000472714.2:n.634G>A (LAMB1)
ENST00000474380.2:n.1978G>A (LAMB1)
ENST00000676574.1:c.*1079G>A (LAMB1)	ENSP00000503081.1:n.*1079G>A
ENST00000676744.1:n.1009G>A (LAMB1)
ENST00000677101.1:c.*4799G>A (LAMB1)	ENSP00000503156.1:n.*4799G>A
ENST00000677144.1:c.*1982G>A (LAMB1)	ENSP00000503049.1:n.*1982G>A
ENST00000677485.1:n.6387G>A (LAMB1)
ENST00000677588.1:c.*1394G>A (LAMB1)	ENSP00000502938.1:n.*1394G>A
ENST00000677793.1:c.4851G>A (LAMB1)	ENSP00000504020.1:p.Met1617Ile
ENST00000677801.1:c.*992G>A (LAMB1)	ENSP00000503438.1:n.*992G>A
ENST00000677957.1:n.2562G>A (LAMB1)
ENST00000678310.1:n.3332G>A (LAMB1)
ENST00000678698.1:c.*1235G>A (LAMB1)	ENSP00000503198.1:n.*1235G>A
ENST00000678704.1:c.*3745G>A (LAMB1)	ENSP00000504589.1:n.*3745G>A
ENST00000678892.1:c.*1235G>A (LAMB1)	ENSP00000504841.1:n.*1235G>A
ENST00000678984.1:n.4059G>A (LAMB1)
ENST00000679200.1:c.*1235G>A (LAMB1)	ENSP00000503498.1:n.*1235G>A
ENST00000222399.10:c.5163G>A (LAMB1)	ENSP00000222399.6:p.Met1721Ile
ENST00000393561.5:c.5235G>A (LAMB1)	ENSP00000377191.1:p.Met1745Ile
ENST00000417551.5:c.*124+4908C>T (DLD)	ENSP00000390667.1:n.*124+4908C>T
ENST00000472714.1:n.1190G>A (LAMB1)
NM_002291.2:c.5163G>A (LAMB1)	NP_002282.2:p.Met1721Ile
XM_017012201.1:c.5235G>A (LAMB1)	XP_016867690.1:p.Met1745Ile
XR_001744756.1:n.6082G>A (LAMB1)
NM_002291.3:c.5163G>A (LAMB1) MANE Select	NP_002282.2:p.Met1721Ile