Canonical Allele Identifier: CA401850440
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v4: 18-7015744-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015744T>C , CM000680.2:g.7015744T>C GRCh38
NC_000018.9:g.7015743T>C , CM000680.1:g.7015743T>C GRCh37
NC_000018.8:g.7005743T>C NCBI36
NG_034251.1:g.107071A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3104A>G MANE Select ENSP00000374309.3:p.Tyr1035Cys
ENST00000389658.3:c.3104A>G ENSP00000374309.3:p.Tyr1035Cys
ENST00000579014.5:n.4119A>G
NM_005559.3:c.3104A>G NP_005550.2:p.Tyr1035Cys
XM_011525655.1:c.3104A>G XP_011523957.1:p.Tyr1035Cys
XM_011525656.1:c.1532A>G XP_011523958.1:p.Tyr511Cys
XM_011525657.1:c.3104A>G XP_011523959.1:p.Tyr1035Cys
XM_011525655.2:c.3104A>G XP_011523957.1:p.Tyr1035Cys
XM_011525656.2:c.1532A>G XP_011523958.1:p.Tyr511Cys
NM_005559.4:c.3104A>G MANE Select NP_005550.2:p.Tyr1035Cys