Canonical Allele Identifier: CA365383462

Gene: LAMA4

Linked Data

• gnomAD v4: 6-112148187-T-C
• MyVariant Identifiers: chr6:g.112469389T>C (hg19) ; chr6:g.112148187T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112148187T>C , CM000668.2:g.112148187T>C	GRCh38
NC_000006.11:g.112469389T>C , CM000668.1:g.112469389T>C	GRCh37
NC_000006.10:g.112576082T>C	NCBI36
NG_008209.1:g.111440A>G , LRG_433:g.111440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.2323A>G MANE Select	ENSP00000230538.7:p.Asn775Asp
ENST00000389463.9:c.2302A>G	ENSP00000374114.4:p.Asn768Asp
ENST00000651860.1:c.193A>G	ENSP00000498842.1:p.Asn65Asp
ENST00000230538.11:c.2323A>G	ENSP00000230538.7:p.Asn775Asp
ENST00000389463.8:c.2302A>G	ENSP00000374114.4:p.Asn768Asp
ENST00000424408.6:c.2302A>G	ENSP00000416470.2:p.Asn768Asp
ENST00000522006.5:c.2302A>G	ENSP00000429488.1:p.Asn768Asp
ENST00000523765.1:c.735A>G
NM_001105206.2:c.2323A>G	NP_001098676.2:p.Asn775Asp
NM_001105207.2:c.2302A>G	NP_001098677.2:p.Asn768Asp
NM_002290.4:c.2302A>G	NP_002281.3:p.Asn768Asp
XM_005266983.3:c.2323A>G	XP_005267040.2:p.Asn775Asp
XM_005266984.3:c.2323A>G	XP_005267041.2:p.Asn775Asp
XM_011535821.1:c.2323A>G	XP_011534123.1:p.Asn775Asp
XM_005266983.4:c.2323A>G	XP_005267040.2:p.Asn775Asp
XM_005266984.4:c.2323A>G	XP_005267041.2:p.Asn775Asp
XM_017010854.2:c.2302A>G	XP_016866343.1:p.Asn768Asp
XR_001743406.2:n.2594A>G
XR_001743407.2:n.2573A>G
XR_001744299.1:n.429-7133T>C
NM_001105206.3:c.2323A>G MANE Select	NP_001098676.2:p.Asn775Asp
NM_001105207.3:c.2302A>G	NP_001098677.2:p.Asn768Asp
NM_002290.5:c.2302A>G	NP_002281.3:p.Asn768Asp