Canonical Allele Identifier: CA401850404
Gene: LAMA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015726C>T , CM000680.2:g.7015726C>T GRCh38
NC_000018.9:g.7015725C>T , CM000680.1:g.7015725C>T GRCh37
NC_000018.8:g.7005725C>T NCBI36
NG_034251.1:g.107089G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3122G>A MANE Select ENSP00000374309.3:p.Cys1041Tyr
ENST00000389658.3:c.3122G>A ENSP00000374309.3:p.Cys1041Tyr
ENST00000579014.5:n.4137G>A
NM_005559.3:c.3122G>A NP_005550.2:p.Cys1041Tyr
XM_011525655.1:c.3122G>A XP_011523957.1:p.Cys1041Tyr
XM_011525656.1:c.1550G>A XP_011523958.1:p.Cys517Tyr
XM_011525657.1:c.3122G>A XP_011523959.1:p.Cys1041Tyr
XM_011525655.2:c.3122G>A XP_011523957.1:p.Cys1041Tyr
XM_011525656.2:c.1550G>A XP_011523958.1:p.Cys517Tyr
NM_005559.4:c.3122G>A MANE Select NP_005550.2:p.Cys1041Tyr