Canonical Allele Identifier: CA401850665

Gene: LAMA1

Linked Data

• MyVariant Identifiers: chr18:g.7015843G>T (hg19) ; chr18:g.7015844G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015844G>T , CM000680.2:g.7015844G>T	GRCh38
NC_000018.9:g.7015843G>T , CM000680.1:g.7015843G>T	GRCh37
NC_000018.8:g.7005843G>T	NCBI36
NG_034251.1:g.106971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3004C>A MANE Select	ENSP00000374309.3:p.His1002Asn
ENST00000389658.3:c.3004C>A	ENSP00000374309.3:p.His1002Asn
ENST00000579014.5:n.4019C>A
NM_005559.3:c.3004C>A	NP_005550.2:p.His1002Asn
XM_011525655.1:c.3004C>A	XP_011523957.1:p.His1002Asn
XM_011525656.1:c.1432C>A	XP_011523958.1:p.His478Asn
XM_011525657.1:c.3004C>A	XP_011523959.1:p.His1002Asn
XM_011525655.2:c.3004C>A	XP_011523957.1:p.His1002Asn
XM_011525656.2:c.1432C>A	XP_011523958.1:p.His478Asn
NM_005559.4:c.3004C>A MANE Select	NP_005550.2:p.His1002Asn