Canonical Allele Identifier: CA401850630
Gene: LAMA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015829A>T , CM000680.2:g.7015829A>T GRCh38
NC_000018.9:g.7015828A>T , CM000680.1:g.7015828A>T GRCh37
NC_000018.8:g.7005828A>T NCBI36
NG_034251.1:g.106986T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3019T>A MANE Select ENSP00000374309.3:p.Cys1007Ser
ENST00000389658.3:c.3019T>A ENSP00000374309.3:p.Cys1007Ser
ENST00000579014.5:n.4034T>A
NM_005559.3:c.3019T>A NP_005550.2:p.Cys1007Ser
XM_011525655.1:c.3019T>A XP_011523957.1:p.Cys1007Ser
XM_011525656.1:c.1447T>A XP_011523958.1:p.Cys483Ser
XM_011525657.1:c.3019T>A XP_011523959.1:p.Cys1007Ser
XM_011525655.2:c.3019T>A XP_011523957.1:p.Cys1007Ser
XM_011525656.2:c.1447T>A XP_011523958.1:p.Cys483Ser
NM_005559.4:c.3019T>A MANE Select NP_005550.2:p.Cys1007Ser