Canonical Allele Identifier: CA344583593

Gene: LAMB3

Linked Data

• MyVariant Identifiers: chr1:g.209790768A>C (hg19) ; chr1:g.209617423A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617423A>C , CM000663.2:g.209617423A>C	GRCh38
NC_000001.10:g.209790768A>C , CM000663.1:g.209790768A>C	GRCh37
NC_000001.9:g.207857391A>C	NCBI36
NG_007116.1:g.40053T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.3215T>G MANE Select	ENSP00000348384.3:p.Leu1072Trp
ENST00000356082.8:c.3215T>G	ENSP00000348384.3:p.Leu1072Trp
ENST00000367030.7:c.3215T>G	ENSP00000355997.3:p.Leu1072Trp
ENST00000391911.5:c.3215T>G	ENSP00000375778.1:p.Leu1072Trp
ENST00000455193.1:c.422T>G	ENSP00000398683.1:p.Leu141Trp
NM_000228.2:c.3215T>G	NP_000219.2:p.Leu1072Trp
NM_001017402.1:c.3215T>G	NP_001017402.1:p.Leu1072Trp
NM_001127641.1:c.3215T>G	NP_001121113.1:p.Leu1072Trp
XM_005273124.3:c.3215T>G	XP_005273181.1:p.Leu1072Trp
XM_005273124.4:c.3215T>G	XP_005273181.1:p.Leu1072Trp
XM_017001272.2:c.3023T>G	XP_016856761.1:p.Leu1008Trp
NM_000228.3:c.3215T>G MANE Select	NP_000219.2:p.Leu1072Trp
NM_001017402.2:c.3215T>G	NP_001017402.1:p.Leu1072Trp