Canonical Allele Identifier: CA365363815

Gene: LAMA4

Linked Data

• MyVariant Identifiers: chr6:g.112430783A>C (hg19) ; chr6:g.112109580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112109580A>C , CM000668.2:g.112109580A>C	GRCh38
NC_000006.11:g.112430783A>C , CM000668.1:g.112430783A>C	GRCh37
NC_000006.10:g.112537476A>C	NCBI36
NG_008209.1:g.150046T>G , LRG_433:g.150046T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.5329T>G MANE Select	ENSP00000230538.7:p.Ser1777Ala
ENST00000389463.9:c.5308T>G	ENSP00000374114.4:p.Ser1770Ala
ENST00000651529.1:c.1347T>G
ENST00000651860.1:c.3052T>G	ENSP00000498842.1:p.Ser1018Ala
ENST00000230538.11:c.5329T>G	ENSP00000230538.7:p.Ser1777Ala
ENST00000389463.8:c.5308T>G	ENSP00000374114.4:p.Ser1770Ala
ENST00000424408.6:c.5308T>G	ENSP00000416470.2:p.Ser1770Ala
ENST00000522006.5:c.5308T>G	ENSP00000429488.1:p.Ser1770Ala
NM_001105206.2:c.5329T>G	NP_001098676.2:p.Ser1777Ala
NM_001105207.2:c.5308T>G	NP_001098677.2:p.Ser1770Ala
NM_002290.4:c.5308T>G	NP_002281.3:p.Ser1770Ala
XM_005266983.3:c.5329T>G	XP_005267040.2:p.Ser1777Ala
XM_005266984.3:c.5329T>G	XP_005267041.2:p.Ser1777Ala
XM_005266983.4:c.5329T>G	XP_005267040.2:p.Ser1777Ala
XM_005266984.4:c.5329T>G	XP_005267041.2:p.Ser1777Ala
XM_017010854.2:c.5308T>G	XP_016866343.1:p.Ser1770Ala
XR_001743406.2:n.5466T>G
XR_001743407.2:n.5445T>G
NM_001105206.3:c.5329T>G MANE Select	NP_001098676.2:p.Ser1777Ala
NM_001105207.3:c.5308T>G	NP_001098677.2:p.Ser1770Ala
NM_002290.5:c.5308T>G	NP_002281.3:p.Ser1770Ala