Canonical Allele Identifier: CA16620719
Gene: LAMA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421947
ClinVar RCV Id: RCV000486176
dbSNP Id: rs1064795464

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015724G>A , CM000680.2:g.7015724G>A GRCh38
NC_000018.9:g.7015723G>A , CM000680.1:g.7015723G>A GRCh37
NC_000018.8:g.7005723G>A NCBI36
NG_034251.1:g.107091C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.3124C>T MANE Select ENSP00000374309.3:p.Gln1042Ter
ENST00000389658.3:c.3124C>T ENSP00000374309.3:p.Gln1042Ter
ENST00000579014.5:n.4139C>T
NM_005559.3:c.3124C>T NP_005550.2:p.Gln1042Ter
XM_011525655.1:c.3124C>T XP_011523957.1:p.Gln1042Ter
XM_011525656.1:c.1552C>T XP_011523958.1:p.Gln518Ter
XM_011525657.1:c.3124C>T XP_011523959.1:p.Gln1042Ter
XM_011525655.2:c.3124C>T XP_011523957.1:p.Gln1042Ter
XM_011525656.2:c.1552C>T XP_011523958.1:p.Gln518Ter
NM_005559.4:c.3124C>T MANE Select NP_005550.2:p.Gln1042Ter