Canonical Allele Identifier: CA365377482

Gene: LAMA4

Linked Data

• gnomAD v4: 6-112136173-G-T
• MyVariant Identifiers: chr6:g.112457375G>T (hg19) ; chr6:g.112136173G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112136173G>T , CM000668.2:g.112136173G>T	GRCh38
NC_000006.11:g.112457375G>T , CM000668.1:g.112457375G>T	GRCh37
NC_000006.10:g.112564068G>T	NCBI36
NG_008209.1:g.123454C>A , LRG_433:g.123454C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000230538.12:c.3364C>A MANE Select	ENSP00000230538.7:p.Leu1122Ile
ENST00000389463.9:c.3343C>A	ENSP00000374114.4:p.Leu1115Ile
ENST00000651860.1:c.1234C>A	ENSP00000498842.1:p.Leu412Ile
ENST00000230538.11:c.3364C>A	ENSP00000230538.7:p.Leu1122Ile
ENST00000389463.8:c.3343C>A	ENSP00000374114.4:p.Leu1115Ile
ENST00000424408.6:c.3343C>A	ENSP00000416470.2:p.Leu1115Ile
ENST00000519245.1:n.239C>A
ENST00000522006.5:c.3343C>A	ENSP00000429488.1:p.Leu1115Ile
NM_001105206.2:c.3364C>A	NP_001098676.2:p.Leu1122Ile
NM_001105207.2:c.3343C>A	NP_001098677.2:p.Leu1115Ile
NM_002290.4:c.3343C>A	NP_002281.3:p.Leu1115Ile
XM_005266983.3:c.3364C>A	XP_005267040.2:p.Leu1122Ile
XM_005266984.3:c.3364C>A	XP_005267041.2:p.Leu1122Ile
XM_011535821.1:c.3364C>A	XP_011534123.1:p.Leu1122Ile
XM_005266983.4:c.3364C>A	XP_005267040.2:p.Leu1122Ile
XM_005266984.4:c.3364C>A	XP_005267041.2:p.Leu1122Ile
XM_017010854.2:c.3343C>A	XP_016866343.1:p.Leu1115Ile
XR_001743406.2:n.3635C>A
XR_001743407.2:n.3614C>A
XR_001744299.1:n.429-19147G>T
NM_001105206.3:c.3364C>A MANE Select	NP_001098676.2:p.Leu1122Ile
NM_001105207.3:c.3343C>A	NP_001098677.2:p.Leu1115Ile
NM_002290.5:c.3343C>A	NP_002281.3:p.Leu1115Ile