Canonical Allele Identifier: CA295758063

Gene: LAMA1

Linked Data

• dbSNP Id: rs202160200
• MyVariant Identifiers: chr18:g.7042172C>A (hg19) ; chr18:g.7042173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7042173C>A , CM000680.2:g.7042173C>A	GRCh38
NC_000018.9:g.7042172C>A , CM000680.1:g.7042172C>A	GRCh37
NC_000018.8:g.7032172C>A	NCBI36
NG_034251.1:g.80642G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389658.4:c.1233G>T MANE Select	ENSP00000374309.3:p.Lys411Asn
ENST00000389658.3:c.1233G>T	ENSP00000374309.3:p.Lys411Asn
ENST00000579014.5:n.2248G>T
NM_005559.3:c.1233G>T	NP_005550.2:p.Lys411Asn
XM_011525655.1:c.1233G>T	XP_011523957.1:p.Lys411Asn
XM_011525657.1:c.1233G>T	XP_011523959.1:p.Lys411Asn
XM_011525655.2:c.1233G>T	XP_011523957.1:p.Lys411Asn
NM_005559.4:c.1233G>T MANE Select	NP_005550.2:p.Lys411Asn