Canonical Allele Identifier: CA401840257

Gene: LAMA1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_005559.4:c.8192C>T MANE Select	NP_005550.2:p.Ser2731Leu
ENST00000389658.4:c.8192C>T MANE Select	ENSP00000374309.3:p.Ser2731Leu
NM_005559.3:c.8192C>T	NP_005550.2:p.Ser2731Leu
NR_126040.1:n.244G>A
ENST00000389658.3:c.8192C>T	ENSP00000374309.3:p.Ser2731Leu
ENST00000488064.5:n.1599C>T
ENST00000488089.1:n.2939C>T
ENST00000492048.5:n.1080C>T
ENST00000579014.5:n.9207C>T
XM_011525655.1:c.8222C>T	XP_011523957.1:p.Ser2741Leu
XM_011525655.2:c.8222C>T	XP_011523957.1:p.Ser2741Leu
XM_011525656.1:c.6650C>T	XP_011523958.1:p.Ser2217Leu
XM_011525656.2:c.6650C>T	XP_011523958.1:p.Ser2217Leu