Canonical Allele Identifier: CA344584097

Gene: LAMB3

Linked Data

• dbSNP Id: rs1666014364
• MyVariant Identifiers: chr1:g.209790851C>G (hg19) ; chr1:g.209617506C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617506C>G , CM000663.2:g.209617506C>G	GRCh38
NC_000001.10:g.209790851C>G , CM000663.1:g.209790851C>G	GRCh37
NC_000001.9:g.207857474C>G	NCBI36
NG_007116.1:g.39970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.3132G>C MANE Select	ENSP00000348384.3:p.Glu1044Asp
ENST00000356082.8:c.3132G>C	ENSP00000348384.3:p.Glu1044Asp
ENST00000367030.7:c.3132G>C	ENSP00000355997.3:p.Glu1044Asp
ENST00000391911.5:c.3132G>C	ENSP00000375778.1:p.Glu1044Asp
ENST00000455193.1:c.339G>C	ENSP00000398683.1:p.Glu113Asp
NM_000228.2:c.3132G>C	NP_000219.2:p.Glu1044Asp
NM_001017402.1:c.3132G>C	NP_001017402.1:p.Glu1044Asp
NM_001127641.1:c.3132G>C	NP_001121113.1:p.Glu1044Asp
XM_005273124.3:c.3132G>C	XP_005273181.1:p.Glu1044Asp
XM_005273124.4:c.3132G>C	XP_005273181.1:p.Glu1044Asp
XM_017001272.2:c.2940G>C	XP_016856761.1:p.Glu980Asp
NM_000228.3:c.3132G>C MANE Select	NP_000219.2:p.Glu1044Asp
NM_001017402.2:c.3132G>C	NP_001017402.1:p.Glu1044Asp