Canonical Allele Identifier: CA8880768

Gene: LAMA1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.7831A>C MANE Select	ENSP00000374309.3:p.Thr2611Pro
ENST00000638611.1:c.190A>C	ENSP00000491821.1:p.Thr64Pro
ENST00000389658.3:c.7831A>C	ENSP00000374309.3:p.Thr2611Pro
ENST00000488064.5:n.1238A>C
ENST00000488089.1:n.1408A>C
ENST00000579014.5:n.8846A>C
NM_005559.3:c.7831A>C	NP_005550.2:p.Thr2611Pro
XM_011525655.1:c.7831A>C	XP_011523957.1:p.Thr2611Pro
XM_011525656.1:c.6259A>C	XP_011523958.1:p.Thr2087Pro
XM_011525655.2:c.7831A>C	XP_011523957.1:p.Thr2611Pro
XM_011525656.2:c.6259A>C	XP_011523958.1:p.Thr2087Pro
NM_005559.4:c.7831A>C MANE Select	NP_005550.2:p.Thr2611Pro