Canonical Allele Identifier: CA344584949

Gene: LAMB3

Linked Data

• gnomAD v4: 1-209618452-C-T
• MyVariant Identifiers: chr1:g.209791797C>T (hg19) ; chr1:g.209618452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618452C>T , CM000663.2:g.209618452C>T	GRCh38
NC_000001.10:g.209791797C>T , CM000663.1:g.209791797C>T	GRCh37
NC_000001.9:g.207858420C>T	NCBI36
NG_007116.1:g.39024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2909G>A MANE Select	ENSP00000348384.3:p.Arg970Lys
ENST00000356082.8:c.2909G>A	ENSP00000348384.3:p.Arg970Lys
ENST00000367030.7:c.2909G>A	ENSP00000355997.3:p.Arg970Lys
ENST00000391911.5:c.2909G>A	ENSP00000375778.1:p.Arg970Lys
ENST00000455193.1:c.116G>A	ENSP00000398683.1:p.Arg39Lys
NM_000228.2:c.2909G>A	NP_000219.2:p.Arg970Lys
NM_001017402.1:c.2909G>A	NP_001017402.1:p.Arg970Lys
NM_001127641.1:c.2909G>A	NP_001121113.1:p.Arg970Lys
XM_005273124.3:c.2909G>A	XP_005273181.1:p.Arg970Lys
XM_005273124.4:c.2909G>A	XP_005273181.1:p.Arg970Lys
XM_017001272.2:c.2717G>A	XP_016856761.1:p.Arg906Lys
NM_000228.3:c.2909G>A MANE Select	NP_000219.2:p.Arg970Lys
NM_001017402.2:c.2909G>A	NP_001017402.1:p.Arg970Lys