Canonical Allele Identifier: CA344581112

Gene: LAMB3

Linked Data

• dbSNP Id: rs1272322281
• gnomAD v2: 1-209788713-A-G
• MyVariant Identifiers: chr1:g.209788713A>G (hg19) ; chr1:g.209615368A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209615368A>G , CM000663.2:g.209615368A>G	GRCh38
NC_000001.10:g.209788713A>G , CM000663.1:g.209788713A>G	GRCh37
NC_000001.9:g.207855336A>G	NCBI36
NG_007116.1:g.42108T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.3422T>C MANE Select	ENSP00000348384.3:p.Met1141Thr
ENST00000356082.8:c.3422T>C	ENSP00000348384.3:p.Met1141Thr
ENST00000367030.7:c.3422T>C	ENSP00000355997.3:p.Met1141Thr
ENST00000391911.5:c.3422T>C	ENSP00000375778.1:p.Met1141Thr
NM_000228.2:c.3422T>C	NP_000219.2:p.Met1141Thr
NM_001017402.1:c.3422T>C	NP_001017402.1:p.Met1141Thr
NM_001127641.1:c.3422T>C	NP_001121113.1:p.Met1141Thr
XM_005273124.3:c.3422T>C	XP_005273181.1:p.Met1141Thr
XM_005273124.4:c.3422T>C	XP_005273181.1:p.Met1141Thr
XM_017001272.2:c.3230T>C	XP_016856761.1:p.Met1077Thr
NM_000228.3:c.3422T>C MANE Select	NP_000219.2:p.Met1141Thr
NM_001017402.2:c.3422T>C	NP_001017402.1:p.Met1141Thr