Canonical Allele Identifier: CA368858781

Gene: LAMB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107940218G>T , CM000669.2:g.107940218G>T	GRCh38
NC_000007.13:g.107580663G>T , CM000669.1:g.107580663G>T	GRCh37
NC_000007.12:g.107367899G>T	NCBI36
NG_023255.1:g.68142C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.3532C>A MANE Select	NP_002282.2:p.Pro1178Thr
ENST00000222399.11:c.3532C>A MANE Select	ENSP00000222399.6:p.Pro1178Thr
NM_002291.2:c.3532C>A	NP_002282.2:p.Pro1178Thr
ENST00000222399.10:c.3532C>A	ENSP00000222399.6:p.Pro1178Thr
ENST00000393561.5:c.3604C>A	ENSP00000377191.1:p.Pro1202Thr
ENST00000393561.6:c.3121C>A	ENSP00000377191.2:p.Pro1041Thr
ENST00000468999.1:n.347C>A
ENST00000468999.2:n.1585C>A
ENST00000474380.2:n.347C>A
ENST00000676574.1:c.3532C>A	ENSP00000503081.1:p.Pro1178Thr
ENST00000676777.1:c.3532C>A	ENSP00000504756.1:p.Pro1178Thr
ENST00000677101.1:c.*3168C>A	ENSP00000503156.1:n.*3168C>A
ENST00000677144.1:c.*351C>A	ENSP00000503049.1:n.*351C>A
ENST00000677485.1:n.4756C>A
ENST00000677588.1:c.3392-2941C>A	ENSP00000502938.1:n.3392-2941C>A
ENST00000677652.1:n.3721C>A
ENST00000677793.1:c.3220C>A	ENSP00000504020.1:p.Pro1074Thr
ENST00000677801.1:c.3121C>A	ENSP00000503438.1:p.Pro1041Thr
ENST00000678232.1:n.3721C>A
ENST00000678310.1:n.1585C>A
ENST00000678346.1:c.*3028-2941C>A	ENSP00000504349.1:n.*3028-2941C>A
ENST00000678698.1:c.3121C>A	ENSP00000503198.1:p.Pro1041Thr
ENST00000678704.1:c.*2114C>A	ENSP00000504589.1:n.*2114C>A
ENST00000678892.1:c.3532C>A	ENSP00000504841.1:p.Pro1178Thr
ENST00000679173.1:n.3581-2941C>A
ENST00000679200.1:c.3121C>A	ENSP00000503498.1:p.Pro1041Thr
XM_011516203.1:c.3532C>A	XP_011514505.1:p.Pro1178Thr
XM_017012201.1:c.3604C>A	XP_016867690.1:p.Pro1202Thr
XR_001744756.1:n.4335C>A