Canonical Allele Identifier: CA365383443

Gene: LAMA4

Linked Data

• MyVariant Identifiers: chr6:g.112469380C>A (hg19) ; chr6:g.112148178C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112148178C>A , CM000668.2:g.112148178C>A	GRCh38
NC_000006.11:g.112469380C>A , CM000668.1:g.112469380C>A	GRCh37
NC_000006.10:g.112576073C>A	NCBI36
NG_008209.1:g.111449G>T , LRG_433:g.111449G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.2332G>T MANE Select	ENSP00000230538.7:p.Val778Leu
ENST00000389463.9:c.2311G>T	ENSP00000374114.4:p.Val771Leu
ENST00000651860.1:c.202G>T	ENSP00000498842.1:p.Val68Leu
ENST00000230538.11:c.2332G>T	ENSP00000230538.7:p.Val778Leu
ENST00000389463.8:c.2311G>T	ENSP00000374114.4:p.Val771Leu
ENST00000424408.6:c.2311G>T	ENSP00000416470.2:p.Val771Leu
ENST00000522006.5:c.2311G>T	ENSP00000429488.1:p.Val771Leu
ENST00000523765.1:c.744G>T
NM_001105206.2:c.2332G>T	NP_001098676.2:p.Val778Leu
NM_001105207.2:c.2311G>T	NP_001098677.2:p.Val771Leu
NM_002290.4:c.2311G>T	NP_002281.3:p.Val771Leu
XM_005266983.3:c.2332G>T	XP_005267040.2:p.Val778Leu
XM_005266984.3:c.2332G>T	XP_005267041.2:p.Val778Leu
XM_011535821.1:c.2332G>T	XP_011534123.1:p.Val778Leu
XM_005266983.4:c.2332G>T	XP_005267040.2:p.Val778Leu
XM_005266984.4:c.2332G>T	XP_005267041.2:p.Val778Leu
XM_017010854.2:c.2311G>T	XP_016866343.1:p.Val771Leu
XR_001743406.2:n.2603G>T
XR_001743407.2:n.2582G>T
XR_001744299.1:n.429-7142C>A
NM_001105206.3:c.2332G>T MANE Select	NP_001098676.2:p.Val778Leu
NM_001105207.3:c.2311G>T	NP_001098677.2:p.Val771Leu
NM_002290.5:c.2311G>T	NP_002281.3:p.Val771Leu