Canonical Allele Identifier: CA240304

Gene: LAMA4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112158876G>A , CM000668.2:g.112158876G>A	GRCh38
NC_000006.11:g.112480078G>A , CM000668.1:g.112480078G>A	GRCh37
NC_000006.10:g.112586771G>A	NCBI36
NG_008209.1:g.100751C>T , LRG_433:g.100751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.1673C>T MANE Select	ENSP00000230538.7:p.Ala558Val
ENST00000389463.9:c.1652C>T	ENSP00000374114.4:p.Ala551Val
ENST00000230538.11:c.1673C>T	ENSP00000230538.7:p.Ala558Val
ENST00000389463.8:c.1652C>T	ENSP00000374114.4:p.Ala551Val
ENST00000424408.6:c.1652C>T	ENSP00000416470.2:p.Ala551Val
ENST00000522006.5:c.1652C>T	ENSP00000429488.1:p.Ala551Val
ENST00000523765.1:c.10C>T
NM_001105206.2:c.1673C>T	NP_001098676.2:p.Ala558Val
NM_001105207.2:c.1652C>T	NP_001098677.2:p.Ala551Val
NM_002290.4:c.1652C>T	NP_002281.3:p.Ala551Val
XM_005266983.3:c.1673C>T	XP_005267040.2:p.Ala558Val
XM_005266984.3:c.1673C>T	XP_005267041.2:p.Ala558Val
XM_011535821.1:c.1673C>T	XP_011534123.1:p.Ala558Val
XM_005266983.4:c.1673C>T	XP_005267040.2:p.Ala558Val
XM_005266984.4:c.1673C>T	XP_005267041.2:p.Ala558Val
XM_017010854.2:c.1652C>T	XP_016866343.1:p.Ala551Val
XR_001743406.2:n.1944C>T
XR_001743407.2:n.1923C>T
NM_001105206.3:c.1673C>T MANE Select	NP_001098676.2:p.Ala558Val
NM_001105207.3:c.1652C>T	NP_001098677.2:p.Ala551Val
NM_002290.5:c.1652C>T	NP_002281.3:p.Ala551Val