Canonical Allele Identifier: CA2576450392
Gene: LAMA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015651A>T , CM000680.2:g.7015651A>T GRCh38
NC_000018.9:g.7015650A>T , CM000680.1:g.7015650A>T GRCh37
NC_000018.8:g.7005650A>T NCBI36
NG_034251.1:g.107164T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.3126+71T>A MANE Select ENSP00000374309.3:n.3126+71T>A
ENST00000389658.3:c.3126+71T>A ENSP00000374309.3:n.3126+71T>A
ENST00000579014.5:n.4141+71T>A
NM_005559.3:c.3126+71T>A NP_005550.2:n.3126+71T>A
XM_011525655.1:c.3126+71T>A XP_011523957.1:n.3126+71T>A
XM_011525656.1:c.1554+71T>A XP_011523958.1:n.1554+71T>A
XM_011525657.1:c.3126+71T>A XP_011523959.1:n.3126+71T>A
XM_011525655.2:c.3126+71T>A XP_011523957.1:n.3126+71T>A
XM_011525656.2:c.1554+71T>A XP_011523958.1:n.1554+71T>A
NM_005559.4:c.3126+71T>A MANE Select NP_005550.2:n.3126+71T>A
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