Canonical Allele Identifier: CA401836208

Gene: LAMA1

Linked Data

• gnomAD v4: 18-7042169-C-A
• MyVariant Identifiers: chr18:g.7042168C>A (hg19) ; chr18:g.7042169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7042169C>A , CM000680.2:g.7042169C>A	GRCh38
NC_000018.9:g.7042168C>A , CM000680.1:g.7042168C>A	GRCh37
NC_000018.8:g.7032168C>A	NCBI36
NG_034251.1:g.80646G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389658.4:c.1237G>T MANE Select	ENSP00000374309.3:p.Asp413Tyr
ENST00000389658.3:c.1237G>T	ENSP00000374309.3:p.Asp413Tyr
ENST00000579014.5:n.2252G>T
NM_005559.3:c.1237G>T	NP_005550.2:p.Asp413Tyr
XM_011525655.1:c.1237G>T	XP_011523957.1:p.Asp413Tyr
XM_011525657.1:c.1237G>T	XP_011523959.1:p.Asp413Tyr
XM_011525655.2:c.1237G>T	XP_011523957.1:p.Asp413Tyr
NM_005559.4:c.1237G>T MANE Select	NP_005550.2:p.Asp413Tyr