Canonical Allele Identifier: CA36749836

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2263909
• ClinVar RCV Id: RCV002798264
• dbSNP Id: rs753174535
• MyVariant Identifiers: chr1:g.209791277C>A (hg19) ; chr1:g.209617932C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617932C>A , CM000663.2:g.209617932C>A	GRCh38
NC_000001.10:g.209791277C>A , CM000663.1:g.209791277C>A	GRCh37
NC_000001.9:g.207857900C>A	NCBI36
NG_007116.1:g.39544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.3026G>T MANE Select	ENSP00000348384.3:p.Arg1009Leu
ENST00000356082.8:c.3026G>T	ENSP00000348384.3:p.Arg1009Leu
ENST00000367030.7:c.3026G>T	ENSP00000355997.3:p.Arg1009Leu
ENST00000391911.5:c.3026G>T	ENSP00000375778.1:p.Arg1009Leu
ENST00000455193.1:c.233G>T	ENSP00000398683.1:p.Arg78Leu
NM_000228.2:c.3026G>T	NP_000219.2:p.Arg1009Leu
NM_001017402.1:c.3026G>T	NP_001017402.1:p.Arg1009Leu
NM_001127641.1:c.3026G>T	NP_001121113.1:p.Arg1009Leu
XM_005273124.3:c.3026G>T	XP_005273181.1:p.Arg1009Leu
XM_005273124.4:c.3026G>T	XP_005273181.1:p.Arg1009Leu
XM_017001272.2:c.2834G>T	XP_016856761.1:p.Arg945Leu
NM_000228.3:c.3026G>T MANE Select	NP_000219.2:p.Arg1009Leu
NM_001017402.2:c.3026G>T	NP_001017402.1:p.Arg1009Leu