Canonical Allele Identifier: CA344589573

Gene: LAMB3

Linked Data

• dbSNP Id: rs1401679795
• gnomAD v2: 1-209799226-G-T
• COSMIC: COSM3705456
• MyVariant Identifiers: chr1:g.209799226G>T (hg19) ; chr1:g.209625881G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625881G>T , CM000663.2:g.209625881G>T	GRCh38
NC_000001.10:g.209799226G>T , CM000663.1:g.209799226G>T	GRCh37
NC_000001.9:g.207865849G>T	NCBI36
NG_007116.1:g.31595C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1743C>A MANE Select	ENSP00000348384.3:p.Cys581Ter
ENST00000356082.8:c.1743C>A	ENSP00000348384.3:p.Cys581Ter
ENST00000367030.7:c.1743C>A	ENSP00000355997.3:p.Cys581Ter
ENST00000391911.5:c.1743C>A	ENSP00000375778.1:p.Cys581Ter
NM_000228.2:c.1743C>A	NP_000219.2:p.Cys581Ter
NM_001017402.1:c.1743C>A	NP_001017402.1:p.Cys581Ter
NM_001127641.1:c.1743C>A	NP_001121113.1:p.Cys581Ter
XM_005273124.3:c.1743C>A	XP_005273181.1:p.Cys581Ter
XM_005273124.4:c.1743C>A	XP_005273181.1:p.Cys581Ter
XM_017001272.2:c.1551C>A	XP_016856761.1:p.Cys517Ter
NM_000228.3:c.1743C>A MANE Select	NP_000219.2:p.Cys581Ter
NM_001017402.2:c.1743C>A	NP_001017402.1:p.Cys581Ter