Canonical Allele Identifier: CA401840258

Gene: LAMA1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.6955368G>C , CM000680.2:g.6955368G>C	GRCh38
NC_000018.9:g.6955367G>C , CM000680.1:g.6955367G>C	GRCh37
NC_000018.8:g.6945367G>C	NCBI36
NG_034251.1:g.167447C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005559.4:c.8192C>G MANE Select	NP_005550.2:p.Ser2731Trp
ENST00000389658.4:c.8192C>G MANE Select	ENSP00000374309.3:p.Ser2731Trp
NM_005559.3:c.8192C>G	NP_005550.2:p.Ser2731Trp
NR_126040.1:n.244G>C
ENST00000389658.3:c.8192C>G	ENSP00000374309.3:p.Ser2731Trp
ENST00000488064.5:n.1599C>G
ENST00000488089.1:n.2939C>G
ENST00000492048.5:n.1080C>G
ENST00000579014.5:n.9207C>G
XM_011525655.1:c.8222C>G	XP_011523957.1:p.Ser2741Trp
XM_011525655.2:c.8222C>G	XP_011523957.1:p.Ser2741Trp
XM_011525656.1:c.6650C>G	XP_011523958.1:p.Ser2217Trp
XM_011525656.2:c.6650C>G	XP_011523958.1:p.Ser2217Trp