Canonical Allele Identifier: CA344588804

Gene: LAMB3

Linked Data

• dbSNP Id: rs2229466
• MyVariant Identifiers: chr1:g.209797253T>G (hg19) ; chr1:g.209623908T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209623908T>G , CM000663.2:g.209623908T>G	GRCh38
NC_000001.10:g.209797253T>G , CM000663.1:g.209797253T>G	GRCh37
NC_000001.9:g.207863876T>G	NCBI36
NG_007116.1:g.33568A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.2069A>C MANE Select	ENSP00000348384.3:p.Asn690Thr
ENST00000356082.8:c.2069A>C	ENSP00000348384.3:p.Asn690Thr
ENST00000367030.7:c.2069A>C	ENSP00000355997.3:p.Asn690Thr
ENST00000391911.5:c.2069A>C	ENSP00000375778.1:p.Asn690Thr
NM_000228.2:c.2069A>C	NP_000219.2:p.Asn690Thr
NM_001017402.1:c.2069A>C	NP_001017402.1:p.Asn690Thr
NM_001127641.1:c.2069A>C	NP_001121113.1:p.Asn690Thr
XM_005273124.3:c.2069A>C	XP_005273181.1:p.Asn690Thr
XM_005273124.4:c.2069A>C	XP_005273181.1:p.Asn690Thr
XM_017001272.2:c.1877A>C	XP_016856761.1:p.Asn626Thr
NM_000228.3:c.2069A>C MANE Select	NP_000219.2:p.Asn690Thr
NM_001017402.2:c.2069A>C	NP_001017402.1:p.Asn690Thr