Canonical Allele Identifier: CA401850565

Gene: LAMA1

Linked Data

• MyVariant Identifiers: chr18:g.7015799G>C (hg19) ; chr18:g.7015800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015800G>C , CM000680.2:g.7015800G>C	GRCh38
NC_000018.9:g.7015799G>C , CM000680.1:g.7015799G>C	GRCh37
NC_000018.8:g.7005799G>C	NCBI36
NG_034251.1:g.107015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3048C>G MANE Select	ENSP00000374309.3:p.Cys1016Trp
ENST00000389658.3:c.3048C>G	ENSP00000374309.3:p.Cys1016Trp
ENST00000579014.5:n.4063C>G
NM_005559.3:c.3048C>G	NP_005550.2:p.Cys1016Trp
XM_011525655.1:c.3048C>G	XP_011523957.1:p.Cys1016Trp
XM_011525656.1:c.1476C>G	XP_011523958.1:p.Cys492Trp
XM_011525657.1:c.3048C>G	XP_011523959.1:p.Cys1016Trp
XM_011525655.2:c.3048C>G	XP_011523957.1:p.Cys1016Trp
XM_011525656.2:c.1476C>G	XP_011523958.1:p.Cys492Trp
NM_005559.4:c.3048C>G MANE Select	NP_005550.2:p.Cys1016Trp