Canonical Allele Identifier: CA344592721

Gene: LAMB3

Linked Data

• gnomAD v4: 1-209629875-A-G
• MyVariant Identifiers: chr1:g.209803220A>G (hg19) ; chr1:g.209629875A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209629875A>G , CM000663.2:g.209629875A>G	GRCh38
NC_000001.10:g.209803220A>G , CM000663.1:g.209803220A>G	GRCh37
NC_000001.9:g.207869843A>G	NCBI36
NG_007116.1:g.27601T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.994T>C MANE Select	ENSP00000348384.3:p.Phe332Leu
ENST00000356082.8:c.994T>C	ENSP00000348384.3:p.Phe332Leu
ENST00000367030.7:c.994T>C	ENSP00000355997.3:p.Phe332Leu
ENST00000391911.5:c.994T>C	ENSP00000375778.1:p.Phe332Leu
NM_000228.2:c.994T>C	NP_000219.2:p.Phe332Leu
NM_001017402.1:c.994T>C	NP_001017402.1:p.Phe332Leu
NM_001127641.1:c.994T>C	NP_001121113.1:p.Phe332Leu
XM_005273124.3:c.994T>C	XP_005273181.1:p.Phe332Leu
XM_005273124.4:c.994T>C	XP_005273181.1:p.Phe332Leu
XM_017001272.2:c.802T>C	XP_016856761.1:p.Phe268Leu
NM_000228.3:c.994T>C MANE Select	NP_000219.2:p.Phe332Leu
NM_001017402.2:c.994T>C	NP_001017402.1:p.Phe332Leu