Canonical Allele Identifier: CA401836232
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v4: 18-7042172-C-A
MyVariant Identifiers: chr18:g.7042171C>A (hg19) chr18:g.7042172C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042172C>A , CM000680.2:g.7042172C>A GRCh38
NC_000018.9:g.7042171C>A , CM000680.1:g.7042171C>A GRCh37
NC_000018.8:g.7032171C>A NCBI36
NG_034251.1:g.80643G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1234G>T MANE Select ENSP00000374309.3:p.Asp412Tyr
ENST00000389658.3:c.1234G>T ENSP00000374309.3:p.Asp412Tyr
ENST00000579014.5:n.2249G>T
NM_005559.3:c.1234G>T NP_005550.2:p.Asp412Tyr
XM_011525655.1:c.1234G>T XP_011523957.1:p.Asp412Tyr
XM_011525657.1:c.1234G>T XP_011523959.1:p.Asp412Tyr
XM_011525655.2:c.1234G>T XP_011523957.1:p.Asp412Tyr
NM_005559.4:c.1234G>T MANE Select NP_005550.2:p.Asp412Tyr
Search 100 bp 5'
Search 100 bp 3'