Canonical Allele Identifier: CA8880767

Gene: LAMA1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.6958610T>C , CM000680.2:g.6958610T>C	GRCh38
NC_000018.9:g.6958609T>C , CM000680.1:g.6958609T>C	GRCh37
NC_000018.8:g.6948609T>C	NCBI36
NG_034251.1:g.164205A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005559.4:c.7831A>G MANE Select	NP_005550.2:p.Thr2611Ala
ENST00000389658.4:c.7831A>G MANE Select	ENSP00000374309.3:p.Thr2611Ala
NM_005559.3:c.7831A>G	NP_005550.2:p.Thr2611Ala
ENST00000389658.3:c.7831A>G	ENSP00000374309.3:p.Thr2611Ala
ENST00000488064.5:n.1238A>G
ENST00000488089.1:n.1408A>G
ENST00000579014.5:n.8846A>G
ENST00000638611.1:c.190A>G	ENSP00000491821.1:p.Thr64Ala
XM_011525655.1:c.7831A>G	XP_011523957.1:p.Thr2611Ala
XM_011525655.2:c.7831A>G	XP_011523957.1:p.Thr2611Ala
XM_011525656.1:c.6259A>G	XP_011523958.1:p.Thr2087Ala
XM_011525656.2:c.6259A>G	XP_011523958.1:p.Thr2087Ala