Canonical Allele Identifier: CA344585355

Gene: LAMB3

Linked Data

• gnomAD v4: 1-209618652-G-T
• MyVariant Identifiers: chr1:g.209791997G>T (hg19) ; chr1:g.209618652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618652G>T , CM000663.2:g.209618652G>T	GRCh38
NC_000001.10:g.209791997G>T , CM000663.1:g.209791997G>T	GRCh37
NC_000001.9:g.207858620G>T	NCBI36
NG_007116.1:g.38824C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2709C>A MANE Select	ENSP00000348384.3:p.Asp903Glu
ENST00000356082.8:c.2709C>A	ENSP00000348384.3:p.Asp903Glu
ENST00000367030.7:c.2709C>A	ENSP00000355997.3:p.Asp903Glu
ENST00000391911.5:c.2709C>A	ENSP00000375778.1:p.Asp903Glu
ENST00000455193.1:c.-85C>A	ENSP00000398683.1:n.-85C>A
NM_000228.2:c.2709C>A	NP_000219.2:p.Asp903Glu
NM_001017402.1:c.2709C>A	NP_001017402.1:p.Asp903Glu
NM_001127641.1:c.2709C>A	NP_001121113.1:p.Asp903Glu
XM_005273124.3:c.2709C>A	XP_005273181.1:p.Asp903Glu
XM_005273124.4:c.2709C>A	XP_005273181.1:p.Asp903Glu
XM_017001272.2:c.2517C>A	XP_016856761.1:p.Asp839Glu
NM_000228.3:c.2709C>A MANE Select	NP_000219.2:p.Asp903Glu
NM_001017402.2:c.2709C>A	NP_001017402.1:p.Asp903Glu