Canonical Allele Identifier: CA344589041

Gene: LAMB3

Linked Data

• dbSNP Id: rs1666407944
• gnomAD v4: 1-209625663-G-A
• MyVariant Identifiers: chr1:g.209799008G>A (hg19) ; chr1:g.209625663G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625663G>A , CM000663.2:g.209625663G>A	GRCh38
NC_000001.10:g.209799008G>A , CM000663.1:g.209799008G>A	GRCh37
NC_000001.9:g.207865631G>A	NCBI36
NG_007116.1:g.31813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1961C>T MANE Select	ENSP00000348384.3:p.Ala654Val
ENST00000356082.8:c.1961C>T	ENSP00000348384.3:p.Ala654Val
ENST00000367030.7:c.1961C>T	ENSP00000355997.3:p.Ala654Val
ENST00000391911.5:c.1961C>T	ENSP00000375778.1:p.Ala654Val
NM_000228.2:c.1961C>T	NP_000219.2:p.Ala654Val
NM_001017402.1:c.1961C>T	NP_001017402.1:p.Ala654Val
NM_001127641.1:c.1961C>T	NP_001121113.1:p.Ala654Val
XM_005273124.3:c.1961C>T	XP_005273181.1:p.Ala654Val
XM_005273124.4:c.1961C>T	XP_005273181.1:p.Ala654Val
XM_017001272.2:c.1769C>T	XP_016856761.1:p.Ala590Val
NM_000228.3:c.1961C>T MANE Select	NP_000219.2:p.Ala654Val
NM_001017402.2:c.1961C>T	NP_001017402.1:p.Ala654Val