Canonical Allele Identifier: CA8882416
Gene: LAMA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1913000
ClinVar RCV Id: RCV002593543
dbSNP Id: rs750460729
gnomAD v2: 18-7015795-G-T
gnomAD v4: 18-7015796-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015796G>T , CM000680.2:g.7015796G>T GRCh38
NC_000018.9:g.7015795G>T , CM000680.1:g.7015795G>T GRCh37
NC_000018.8:g.7005795G>T NCBI36
NG_034251.1:g.107019C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3052C>A MANE Select ENSP00000374309.3:p.Pro1018Thr
ENST00000389658.3:c.3052C>A ENSP00000374309.3:p.Pro1018Thr
ENST00000579014.5:n.4067C>A
NM_005559.3:c.3052C>A NP_005550.2:p.Pro1018Thr
XM_011525655.1:c.3052C>A XP_011523957.1:p.Pro1018Thr
XM_011525656.1:c.1480C>A XP_011523958.1:p.Pro494Thr
XM_011525657.1:c.3052C>A XP_011523959.1:p.Pro1018Thr
XM_011525655.2:c.3052C>A XP_011523957.1:p.Pro1018Thr
XM_011525656.2:c.1480C>A XP_011523958.1:p.Pro494Thr
NM_005559.4:c.3052C>A MANE Select NP_005550.2:p.Pro1018Thr