Canonical Allele Identifier: CA8882415
Gene: LAMA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 587464
ClinVar RCV Id: RCV000714632
dbSNP Id: rs750460729
ExAC: 18:7015795 G / C
gnomAD v2: 18-7015795-G-C
gnomAD v3: 18-7015796-G-C
gnomAD v4: 18-7015796-G-C
MyVariant Identifiers: chr18:g.7015795G>C (hg19) chr18:g.7015796G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015796G>C , CM000680.2:g.7015796G>C GRCh38
NC_000018.9:g.7015795G>C , CM000680.1:g.7015795G>C GRCh37
NC_000018.8:g.7005795G>C NCBI36
NG_034251.1:g.107019C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3052C>G MANE Select ENSP00000374309.3:p.Pro1018Ala
ENST00000389658.3:c.3052C>G ENSP00000374309.3:p.Pro1018Ala
ENST00000579014.5:n.4067C>G
NM_005559.3:c.3052C>G NP_005550.2:p.Pro1018Ala
XM_011525655.1:c.3052C>G XP_011523957.1:p.Pro1018Ala
XM_011525656.1:c.1480C>G XP_011523958.1:p.Pro494Ala
XM_011525657.1:c.3052C>G XP_011523959.1:p.Pro1018Ala
XM_011525655.2:c.3052C>G XP_011523957.1:p.Pro1018Ala
XM_011525656.2:c.1480C>G XP_011523958.1:p.Pro494Ala
NM_005559.4:c.3052C>G MANE Select NP_005550.2:p.Pro1018Ala
Search 100 bp 5'
Search 100 bp 3'