Canonical Allele Identifier: CA237274

Gene: LAMA4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112172687A>T , CM000668.2:g.112172687A>T	GRCh38
NC_000006.11:g.112493889A>T , CM000668.1:g.112493889A>T	GRCh37
NC_000006.10:g.112600582A>T	NCBI36
NG_008209.1:g.86940T>A , LRG_433:g.86940T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.1475T>A MANE Select	ENSP00000230538.7:p.Leu492His
ENST00000389463.9:c.1454T>A	ENSP00000374114.4:p.Leu485His
ENST00000230538.11:c.1475T>A	ENSP00000230538.7:p.Leu492His
ENST00000389463.8:c.1454T>A	ENSP00000374114.4:p.Leu485His
ENST00000424408.6:c.1454T>A	ENSP00000416470.2:p.Leu485His
ENST00000521187.1:n.1668T>A
ENST00000522006.5:c.1454T>A	ENSP00000429488.1:p.Leu485His
NM_001105206.2:c.1475T>A	NP_001098676.2:p.Leu492His
NM_001105207.2:c.1454T>A	NP_001098677.2:p.Leu485His
NM_002290.4:c.1454T>A	NP_002281.3:p.Leu485His
XM_005266983.3:c.1475T>A	XP_005267040.2:p.Leu492His
XM_005266984.3:c.1475T>A	XP_005267041.2:p.Leu492His
XM_011535821.1:c.1475T>A	XP_011534123.1:p.Leu492His
XM_005266983.4:c.1475T>A	XP_005267040.2:p.Leu492His
XM_005266984.4:c.1475T>A	XP_005267041.2:p.Leu492His
XM_017010854.2:c.1454T>A	XP_016866343.1:p.Leu485His
XR_001743406.2:n.1746T>A
XR_001743407.2:n.1725T>A
NM_001105206.3:c.1475T>A MANE Select	NP_001098676.2:p.Leu492His
NM_001105207.3:c.1454T>A	NP_001098677.2:p.Leu485His
NM_002290.5:c.1454T>A	NP_002281.3:p.Leu485His