Canonical Allele Identifier: CA16612096

Gene: LAMA4

Linked Data

• ClinVar Variation Id: 406146
• ClinVar RCV Id: RCV000475717
• dbSNP Id: rs1060500982
• MyVariant Identifiers: chr6:g.112435368T>C (hg19) ; chr6:g.112114165T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112114165T>C , CM000668.2:g.112114165T>C	GRCh38
NC_000006.11:g.112435368T>C , CM000668.1:g.112435368T>C	GRCh37
NC_000006.10:g.112542061T>C	NCBI36
NG_008209.1:g.145461A>G , LRG_433:g.145461A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.5237A>G MANE Select	ENSP00000230538.7:p.Asp1746Gly
ENST00000389463.9:c.5216A>G	ENSP00000374114.4:p.Asp1739Gly
ENST00000651529.1:c.1255A>G
ENST00000651860.1:c.2960A>G	ENSP00000498842.1:p.Asp987Gly
ENST00000230538.11:c.5237A>G	ENSP00000230538.7:p.Asp1746Gly
ENST00000389463.8:c.5216A>G	ENSP00000374114.4:p.Asp1739Gly
ENST00000424408.6:c.5216A>G	ENSP00000416470.2:p.Asp1739Gly
ENST00000522006.5:c.5216A>G	ENSP00000429488.1:p.Asp1739Gly
NM_001105206.2:c.5237A>G	NP_001098676.2:p.Asp1746Gly
NM_001105207.2:c.5216A>G	NP_001098677.2:p.Asp1739Gly
NM_002290.4:c.5216A>G	NP_002281.3:p.Asp1739Gly
XM_005266983.3:c.5237A>G	XP_005267040.2:p.Asp1746Gly
XM_005266984.3:c.5237A>G	XP_005267041.2:p.Asp1746Gly
XM_005266983.4:c.5237A>G	XP_005267040.2:p.Asp1746Gly
XM_005266984.4:c.5237A>G	XP_005267041.2:p.Asp1746Gly
XM_017010854.2:c.5216A>G	XP_016866343.1:p.Asp1739Gly
XR_001743406.2:n.5374A>G
XR_001743407.2:n.5353A>G
NM_001105206.3:c.5237A>G MANE Select	NP_001098676.2:p.Asp1746Gly
NM_001105207.3:c.5216A>G	NP_001098677.2:p.Asp1739Gly
NM_002290.5:c.5216A>G	NP_002281.3:p.Asp1739Gly