Canonical Allele Identifier: CA368874768

Gene: LAMB1

Linked Data

• ClinVar Variation Id: 1359026
• ClinVar RCV Id: RCV001872154
• dbSNP Id: rs2150437179
• gnomAD v4: 7-107972993-T-C
• MyVariant Identifiers: chr7:g.107613438T>C (hg19) ; chr7:g.107972993T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107972993T>C , CM000669.2:g.107972993T>C	GRCh38
NC_000007.13:g.107613438T>C , CM000669.1:g.107613438T>C	GRCh37
NC_000007.12:g.107400674T>C	NCBI36
NG_023255.1:g.35367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.1561A>G MANE Select	ENSP00000222399.6:p.Ser521Gly
ENST00000393561.6:c.1150A>G	ENSP00000377191.2:p.Ser384Gly
ENST00000439976.6:c.1819A>G	ENSP00000412686.2:p.Ser607Gly
ENST00000676574.1:c.1561A>G	ENSP00000503081.1:p.Ser521Gly
ENST00000676777.1:c.1561A>G	ENSP00000504756.1:p.Ser521Gly
ENST00000676920.1:c.1150A>G	ENSP00000503814.1:p.Ser384Gly
ENST00000677101.1:c.*1197A>G	ENSP00000503156.1:n.*1197A>G
ENST00000677144.1:c.1561A>G	ENSP00000503049.1:p.Ser521Gly
ENST00000677485.1:n.2785A>G
ENST00000677588.1:c.1561A>G	ENSP00000502938.1:p.Ser521Gly
ENST00000677652.1:n.1750A>G
ENST00000677734.1:n.1750A>G
ENST00000677793.1:c.1561A>G	ENSP00000504020.1:p.Ser521Gly
ENST00000677801.1:c.1150A>G	ENSP00000503438.1:p.Ser384Gly
ENST00000677994.1:n.1727A>G
ENST00000678232.1:n.1750A>G
ENST00000678266.1:n.1703A>G
ENST00000678346.1:c.*1197A>G	ENSP00000504349.1:n.*1197A>G
ENST00000678698.1:c.1150A>G	ENSP00000503198.1:p.Ser384Gly
ENST00000678704.1:c.*143A>G	ENSP00000504589.1:n.*143A>G
ENST00000678892.1:c.1561A>G	ENSP00000504841.1:p.Ser521Gly
ENST00000679173.1:n.1750A>G
ENST00000679200.1:c.1150A>G	ENSP00000503498.1:p.Ser384Gly
ENST00000679244.1:c.1561A>G	ENSP00000504656.1:p.Ser521Gly
ENST00000222399.10:c.1561A>G	ENSP00000222399.6:p.Ser521Gly
ENST00000393560.5:c.1561A>G	ENSP00000377190.1:p.Ser521Gly
ENST00000393561.5:c.1633A>G	ENSP00000377191.1:p.Ser545Gly
NM_002291.2:c.1561A>G	NP_002282.2:p.Ser521Gly
XM_011516203.1:c.1561A>G	XP_011514505.1:p.Ser521Gly
XM_017012201.1:c.1633A>G	XP_016867690.1:p.Ser545Gly
XM_017012202.1:c.1633A>G	XP_016867691.1:p.Ser545Gly
XR_001744756.1:n.2364A>G
NM_002291.3:c.1561A>G MANE Select	NP_002282.2:p.Ser521Gly