Canonical Allele Identifier: CA368874961

Gene: LAMB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107973017C>G , CM000669.2:g.107973017C>G	GRCh38
NC_000007.13:g.107613462C>G , CM000669.1:g.107613462C>G	GRCh37
NC_000007.12:g.107400698C>G	NCBI36
NG_023255.1:g.35343G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.1537G>C MANE Select	NP_002282.2:p.Asp513His
ENST00000222399.11:c.1537G>C MANE Select	ENSP00000222399.6:p.Asp513His
NM_002291.2:c.1537G>C	NP_002282.2:p.Asp513His
ENST00000222399.10:c.1537G>C	ENSP00000222399.6:p.Asp513His
ENST00000393560.5:c.1537G>C	ENSP00000377190.1:p.Asp513His
ENST00000393561.5:c.1609G>C	ENSP00000377191.1:p.Asp537His
ENST00000393561.6:c.1126G>C	ENSP00000377191.2:p.Asp376His
ENST00000439976.6:c.1795G>C	ENSP00000412686.2:p.Asp599His
ENST00000676574.1:c.1537G>C	ENSP00000503081.1:p.Asp513His
ENST00000676777.1:c.1537G>C	ENSP00000504756.1:p.Asp513His
ENST00000676920.1:c.1126G>C	ENSP00000503814.1:p.Asp376His
ENST00000677101.1:c.*1173G>C	ENSP00000503156.1:n.*1173G>C
ENST00000677144.1:c.1537G>C	ENSP00000503049.1:p.Asp513His
ENST00000677485.1:n.2761G>C
ENST00000677588.1:c.1537G>C	ENSP00000502938.1:p.Asp513His
ENST00000677652.1:n.1726G>C
ENST00000677734.1:n.1726G>C
ENST00000677793.1:c.1537G>C	ENSP00000504020.1:p.Asp513His
ENST00000677801.1:c.1126G>C	ENSP00000503438.1:p.Asp376His
ENST00000677994.1:n.1703G>C
ENST00000678232.1:n.1726G>C
ENST00000678266.1:n.1679G>C
ENST00000678346.1:c.*1173G>C	ENSP00000504349.1:n.*1173G>C
ENST00000678698.1:c.1126G>C	ENSP00000503198.1:p.Asp376His
ENST00000678704.1:c.*119G>C	ENSP00000504589.1:n.*119G>C
ENST00000678892.1:c.1537G>C	ENSP00000504841.1:p.Asp513His
ENST00000679173.1:n.1726G>C
ENST00000679200.1:c.1126G>C	ENSP00000503498.1:p.Asp376His
ENST00000679244.1:c.1537G>C	ENSP00000504656.1:p.Asp513His
XM_011516203.1:c.1537G>C	XP_011514505.1:p.Asp513His
XM_017012201.1:c.1609G>C	XP_016867690.1:p.Asp537His
XM_017012202.1:c.1609G>C	XP_016867691.1:p.Asp537His
XR_001744756.1:n.2340G>C