Canonical Allele Identifier: CA401850444
Gene: LAMA1 HGNC NCBI

Linked Data

dbSNP Id: rs1358804359
gnomAD v2: 18-7015744-A-T
gnomAD v3: 18-7015745-A-T
gnomAD v4: 18-7015745-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015745A>T , CM000680.2:g.7015745A>T GRCh38
NC_000018.9:g.7015744A>T , CM000680.1:g.7015744A>T GRCh37
NC_000018.8:g.7005744A>T NCBI36
NG_034251.1:g.107070T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3103T>A MANE Select ENSP00000374309.3:p.Tyr1035Asn
ENST00000389658.3:c.3103T>A ENSP00000374309.3:p.Tyr1035Asn
ENST00000579014.5:n.4118T>A
NM_005559.3:c.3103T>A NP_005550.2:p.Tyr1035Asn
XM_011525655.1:c.3103T>A XP_011523957.1:p.Tyr1035Asn
XM_011525656.1:c.1531T>A XP_011523958.1:p.Tyr511Asn
XM_011525657.1:c.3103T>A XP_011523959.1:p.Tyr1035Asn
XM_011525655.2:c.3103T>A XP_011523957.1:p.Tyr1035Asn
XM_011525656.2:c.1531T>A XP_011523958.1:p.Tyr511Asn
NM_005559.4:c.3103T>A MANE Select NP_005550.2:p.Tyr1035Asn