Canonical Allele Identifier: CA401850582

Gene: LAMA1

Linked Data

• dbSNP Id: rs2057885054
• gnomAD v3: 18-7015807-C-T
• gnomAD v4: 18-7015807-C-T
• MyVariant Identifiers: chr18:g.7015806C>T (hg19) ; chr18:g.7015807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015807C>T , CM000680.2:g.7015807C>T	GRCh38
NC_000018.9:g.7015806C>T , CM000680.1:g.7015806C>T	GRCh37
NC_000018.8:g.7005806C>T	NCBI36
NG_034251.1:g.107008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3041G>A MANE Select	ENSP00000374309.3:p.Cys1014Tyr
ENST00000389658.3:c.3041G>A	ENSP00000374309.3:p.Cys1014Tyr
ENST00000579014.5:n.4056G>A
NM_005559.3:c.3041G>A	NP_005550.2:p.Cys1014Tyr
XM_011525655.1:c.3041G>A	XP_011523957.1:p.Cys1014Tyr
XM_011525656.1:c.1469G>A	XP_011523958.1:p.Cys490Tyr
XM_011525657.1:c.3041G>A	XP_011523959.1:p.Cys1014Tyr
XM_011525655.2:c.3041G>A	XP_011523957.1:p.Cys1014Tyr
XM_011525656.2:c.1469G>A	XP_011523958.1:p.Cys490Tyr
NM_005559.4:c.3041G>A MANE Select	NP_005550.2:p.Cys1014Tyr