Canonical Allele Identifier: CA344589398

Gene: LAMB3

Linked Data

• gnomAD v4: 1-209625840-T-G
• MyVariant Identifiers: chr1:g.209799185T>G (hg19) ; chr1:g.209625840T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625840T>G , CM000663.2:g.209625840T>G	GRCh38
NC_000001.10:g.209799185T>G , CM000663.1:g.209799185T>G	GRCh37
NC_000001.9:g.207865808T>G	NCBI36
NG_007116.1:g.31636A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1784A>C MANE Select	ENSP00000348384.3:p.Gln595Pro
ENST00000356082.8:c.1784A>C	ENSP00000348384.3:p.Gln595Pro
ENST00000367030.7:c.1784A>C	ENSP00000355997.3:p.Gln595Pro
ENST00000391911.5:c.1784A>C	ENSP00000375778.1:p.Gln595Pro
NM_000228.2:c.1784A>C	NP_000219.2:p.Gln595Pro
NM_001017402.1:c.1784A>C	NP_001017402.1:p.Gln595Pro
NM_001127641.1:c.1784A>C	NP_001121113.1:p.Gln595Pro
XM_005273124.3:c.1784A>C	XP_005273181.1:p.Gln595Pro
XM_005273124.4:c.1784A>C	XP_005273181.1:p.Gln595Pro
XM_017001272.2:c.1592A>C	XP_016856761.1:p.Gln531Pro
NM_000228.3:c.1784A>C MANE Select	NP_000219.2:p.Gln595Pro
NM_001017402.2:c.1784A>C	NP_001017402.1:p.Gln595Pro