Canonical Allele Identifier: CA457110000

Gene: LAMB1

Linked Data

• MyVariant Identifiers: chr7:g.107613451T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107973006T>A , CM000669.2:g.107973006T>A	GRCh38
NC_000007.13:g.107613451T>A , CM000669.1:g.107613451T>A	GRCh37
NC_000007.12:g.107400687T>A	NCBI36
NG_023255.1:g.35354A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.1548A>T MANE Select	ENSP00000222399.6:p.Gly516=
ENST00000393561.6:c.1137A>T	ENSP00000377191.2:p.Gly379=
ENST00000439976.6:c.1806A>T	ENSP00000412686.2:p.Gly602=
ENST00000676574.1:c.1548A>T	ENSP00000503081.1:p.Gly516=
ENST00000676777.1:c.1548A>T	ENSP00000504756.1:p.Gly516=
ENST00000676920.1:c.1137A>T	ENSP00000503814.1:p.Gly379=
ENST00000677101.1:c.*1184A>T	ENSP00000503156.1:n.*1184A>T
ENST00000677144.1:c.1548A>T	ENSP00000503049.1:p.Gly516=
ENST00000677485.1:n.2772A>T
ENST00000677588.1:c.1548A>T	ENSP00000502938.1:p.Gly516=
ENST00000677652.1:n.1737A>T
ENST00000677734.1:n.1737A>T
ENST00000677793.1:c.1548A>T	ENSP00000504020.1:p.Gly516=
ENST00000677801.1:c.1137A>T	ENSP00000503438.1:p.Gly379=
ENST00000677994.1:n.1714A>T
ENST00000678232.1:n.1737A>T
ENST00000678266.1:n.1690A>T
ENST00000678346.1:c.*1184A>T	ENSP00000504349.1:n.*1184A>T
ENST00000678698.1:c.1137A>T	ENSP00000503198.1:p.Gly379=
ENST00000678704.1:c.*130A>T	ENSP00000504589.1:n.*130A>T
ENST00000678892.1:c.1548A>T	ENSP00000504841.1:p.Gly516=
ENST00000679173.1:n.1737A>T
ENST00000679200.1:c.1137A>T	ENSP00000503498.1:p.Gly379=
ENST00000679244.1:c.1548A>T	ENSP00000504656.1:p.Gly516=
ENST00000222399.10:c.1548A>T	ENSP00000222399.6:p.Gly516=
ENST00000393560.5:c.1548A>T	ENSP00000377190.1:p.Gly516=
ENST00000393561.5:c.1620A>T	ENSP00000377191.1:p.Gly540=
NM_002291.2:c.1548A>T	NP_002282.2:p.Gly516=
XM_011516203.1:c.1548A>T	XP_011514505.1:p.Gly516=
XM_017012201.1:c.1620A>T	XP_016867690.1:p.Gly540=
XM_017012202.1:c.1620A>T	XP_016867691.1:p.Gly540=
XR_001744756.1:n.2351A>T
NM_002291.3:c.1548A>T MANE Select	NP_002282.2:p.Gly516=