Canonical Allele Identifier: CA365383424

Gene: LAMA4

Linked Data

• dbSNP Id: rs1780149212
• gnomAD v4: 6-112148169-C-T
• MyVariant Identifiers: chr6:g.112469371C>T (hg19) ; chr6:g.112148169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112148169C>T , CM000668.2:g.112148169C>T	GRCh38
NC_000006.11:g.112469371C>T , CM000668.1:g.112469371C>T	GRCh37
NC_000006.10:g.112576064C>T	NCBI36
NG_008209.1:g.111458G>A , LRG_433:g.111458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.2341G>A MANE Select	ENSP00000230538.7:p.Ala781Thr
ENST00000389463.9:c.2320G>A	ENSP00000374114.4:p.Ala774Thr
ENST00000651860.1:c.211G>A	ENSP00000498842.1:p.Ala71Thr
ENST00000230538.11:c.2341G>A	ENSP00000230538.7:p.Ala781Thr
ENST00000389463.8:c.2320G>A	ENSP00000374114.4:p.Ala774Thr
ENST00000424408.6:c.2320G>A	ENSP00000416470.2:p.Ala774Thr
ENST00000522006.5:c.2320G>A	ENSP00000429488.1:p.Ala774Thr
ENST00000523765.1:c.753G>A
NM_001105206.2:c.2341G>A	NP_001098676.2:p.Ala781Thr
NM_001105207.2:c.2320G>A	NP_001098677.2:p.Ala774Thr
NM_002290.4:c.2320G>A	NP_002281.3:p.Ala774Thr
XM_005266983.3:c.2341G>A	XP_005267040.2:p.Ala781Thr
XM_005266984.3:c.2341G>A	XP_005267041.2:p.Ala781Thr
XM_011535821.1:c.2341G>A	XP_011534123.1:p.Ala781Thr
XM_005266983.4:c.2341G>A	XP_005267040.2:p.Ala781Thr
XM_005266984.4:c.2341G>A	XP_005267041.2:p.Ala781Thr
XM_017010854.2:c.2320G>A	XP_016866343.1:p.Ala774Thr
XR_001743406.2:n.2612G>A
XR_001743407.2:n.2591G>A
XR_001744299.1:n.429-7151C>T
NM_001105206.3:c.2341G>A MANE Select	NP_001098676.2:p.Ala781Thr
NM_001105207.3:c.2320G>A	NP_001098677.2:p.Ala774Thr
NM_002290.5:c.2320G>A	NP_002281.3:p.Ala774Thr