Canonical Allele Identifier: CA36761144

Gene: LAMB3

Linked Data

• dbSNP Id: rs1031008727
• gnomAD v2: 1-209807971-C-T
• gnomAD v3: 1-209634626-C-T
• gnomAD v4: 1-209634626-C-T
• MyVariant Identifiers: chr1:g.209807971C>T (hg19) ; chr1:g.209634626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209634626C>T , CM000663.2:g.209634626C>T	GRCh38
NC_000001.10:g.209807971C>T , CM000663.1:g.209807971C>T	GRCh37
NC_000001.9:g.207874594C>T	NCBI36
NG_007116.1:g.22850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.385G>A MANE Select	ENSP00000348384.3:p.Ala129Thr
ENST00000356082.8:c.385G>A	ENSP00000348384.3:p.Ala129Thr
ENST00000367030.7:c.385G>A	ENSP00000355997.3:p.Ala129Thr
ENST00000391911.5:c.385G>A	ENSP00000375778.1:p.Ala129Thr
ENST00000415782.1:c.385G>A	ENSP00000388960.1:p.Ala129Thr
NM_000228.2:c.385G>A	NP_000219.2:p.Ala129Thr
NM_001017402.1:c.385G>A	NP_001017402.1:p.Ala129Thr
NM_001127641.1:c.385G>A	NP_001121113.1:p.Ala129Thr
XM_005273124.3:c.385G>A	XP_005273181.1:p.Ala129Thr
XM_005273124.4:c.385G>A	XP_005273181.1:p.Ala129Thr
XM_017001272.2:c.373-1493G>A	XP_016856761.1:n.373-1493G>A
NM_000228.3:c.385G>A MANE Select	NP_000219.2:p.Ala129Thr
NM_001017402.2:c.385G>A	NP_001017402.1:p.Ala129Thr