Canonical Allele Identifier: CA423031241

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2861730
• ClinVar RCV Id: RCV003704487
• gnomAD v4: 1-209626904-T-A
• MyVariant Identifiers: chr1:g.209800249T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209626904T>A , CM000663.2:g.209626904T>A	GRCh38
NC_000001.10:g.209800249T>A , CM000663.1:g.209800249T>A	GRCh37
NC_000001.9:g.207866872T>A	NCBI36
NG_007116.1:g.30572A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1560A>T MANE Select	ENSP00000348384.3:p.Pro520=
ENST00000356082.8:c.1560A>T	ENSP00000348384.3:p.Pro520=
ENST00000367030.7:c.1560A>T	ENSP00000355997.3:p.Pro520=
ENST00000391911.5:c.1560A>T	ENSP00000375778.1:p.Pro520=
NM_000228.2:c.1560A>T	NP_000219.2:p.Pro520=
NM_001017402.1:c.1560A>T	NP_001017402.1:p.Pro520=
NM_001127641.1:c.1560A>T	NP_001121113.1:p.Pro520=
XM_005273124.3:c.1560A>T	XP_005273181.1:p.Pro520=
XM_005273124.4:c.1560A>T	XP_005273181.1:p.Pro520=
XM_017001272.2:c.1368A>T	XP_016856761.1:p.Pro456=
NM_000228.3:c.1560A>T MANE Select	NP_000219.2:p.Pro520=
NM_001017402.2:c.1560A>T	NP_001017402.1:p.Pro520=