Canonical Allele Identifier: CA423029569

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1626673
• ClinVar RCV Id: RCV002120534
• dbSNP Id: rs2102405024
• MyVariant Identifiers: chr1:g.209790884G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617539G>C , CM000663.2:g.209617539G>C	GRCh38
NC_000001.10:g.209790884G>C , CM000663.1:g.209790884G>C	GRCh37
NC_000001.9:g.207857507G>C	NCBI36
NG_007116.1:g.39937C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.3099C>G MANE Select	ENSP00000348384.3:p.Thr1033=
ENST00000356082.8:c.3099C>G	ENSP00000348384.3:p.Thr1033=
ENST00000367030.7:c.3099C>G	ENSP00000355997.3:p.Thr1033=
ENST00000391911.5:c.3099C>G	ENSP00000375778.1:p.Thr1033=
ENST00000455193.1:c.306C>G	ENSP00000398683.1:p.Thr102=
NM_000228.2:c.3099C>G	NP_000219.2:p.Thr1033=
NM_001017402.1:c.3099C>G	NP_001017402.1:p.Thr1033=
NM_001127641.1:c.3099C>G	NP_001121113.1:p.Thr1033=
XM_005273124.3:c.3099C>G	XP_005273181.1:p.Thr1033=
XM_005273124.4:c.3099C>G	XP_005273181.1:p.Thr1033=
XM_017001272.2:c.2907C>G	XP_016856761.1:p.Thr969=
NM_000228.3:c.3099C>G MANE Select	NP_000219.2:p.Thr1033=
NM_001017402.2:c.3099C>G	NP_001017402.1:p.Thr1033=