Canonical Allele Identifier: CA401850612
Gene: LAMA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015822G>C , CM000680.2:g.7015822G>C GRCh38
NC_000018.9:g.7015821G>C , CM000680.1:g.7015821G>C GRCh37
NC_000018.8:g.7005821G>C NCBI36
NG_034251.1:g.106993C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3026C>G MANE Select ENSP00000374309.3:p.Pro1009Arg
ENST00000389658.3:c.3026C>G ENSP00000374309.3:p.Pro1009Arg
ENST00000579014.5:n.4041C>G
NM_005559.3:c.3026C>G NP_005550.2:p.Pro1009Arg
XM_011525655.1:c.3026C>G XP_011523957.1:p.Pro1009Arg
XM_011525656.1:c.1454C>G XP_011523958.1:p.Pro485Arg
XM_011525657.1:c.3026C>G XP_011523959.1:p.Pro1009Arg
XM_011525655.2:c.3026C>G XP_011523957.1:p.Pro1009Arg
XM_011525656.2:c.1454C>G XP_011523958.1:p.Pro485Arg
NM_005559.4:c.3026C>G MANE Select NP_005550.2:p.Pro1009Arg