Canonical Allele Identifier: CA344592836

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 984102
• ClinVar RCV Id: RCV001880073
• dbSNP Id: rs1666615300
• MyVariant Identifiers: chr1:g.209803239A>T (hg19) ; chr1:g.209629894A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209629894A>T , CM000663.2:g.209629894A>T	GRCh38
NC_000001.10:g.209803239A>T , CM000663.1:g.209803239A>T	GRCh37
NC_000001.9:g.207869862A>T	NCBI36
NG_007116.1:g.27582T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.975T>A MANE Select	ENSP00000348384.3:p.Cys325Ter
ENST00000356082.8:c.975T>A	ENSP00000348384.3:p.Cys325Ter
ENST00000367030.7:c.975T>A	ENSP00000355997.3:p.Cys325Ter
ENST00000391911.5:c.975T>A	ENSP00000375778.1:p.Cys325Ter
NM_000228.2:c.975T>A	NP_000219.2:p.Cys325Ter
NM_001017402.1:c.975T>A	NP_001017402.1:p.Cys325Ter
NM_001127641.1:c.975T>A	NP_001121113.1:p.Cys325Ter
XM_005273124.3:c.975T>A	XP_005273181.1:p.Cys325Ter
XM_005273124.4:c.975T>A	XP_005273181.1:p.Cys325Ter
XM_017001272.2:c.783T>A	XP_016856761.1:p.Cys261Ter
NM_000228.3:c.975T>A MANE Select	NP_000219.2:p.Cys325Ter
NM_001017402.2:c.975T>A	NP_001017402.1:p.Cys325Ter