Canonical Allele Identifier: CA628132815
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v2: 18-7015605-A-T
gnomAD v3: 18-7015606-A-T
gnomAD v4: 18-7015606-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015606A>T , CM000680.2:g.7015606A>T GRCh38
NC_000018.9:g.7015605A>T , CM000680.1:g.7015605A>T GRCh37
NC_000018.8:g.7005605A>T NCBI36
NG_034251.1:g.107209T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3126+116T>A MANE Select ENSP00000374309.3:n.3126+116T>A
ENST00000389658.3:c.3126+116T>A ENSP00000374309.3:n.3126+116T>A
ENST00000579014.5:n.4141+116T>A
NM_005559.3:c.3126+116T>A NP_005550.2:n.3126+116T>A
XM_011525655.1:c.3126+116T>A XP_011523957.1:n.3126+116T>A
XM_011525656.1:c.1554+116T>A XP_011523958.1:n.1554+116T>A
XM_011525657.1:c.3126+116T>A XP_011523959.1:n.3126+116T>A
XM_011525655.2:c.3126+116T>A XP_011523957.1:n.3126+116T>A
XM_011525656.2:c.1554+116T>A XP_011523958.1:n.1554+116T>A
NM_005559.4:c.3126+116T>A MANE Select NP_005550.2:n.3126+116T>A