Canonical Allele Identifier: CA365363814

Gene: LAMA4

Linked Data

• MyVariant Identifiers: chr6:g.112430782G>T (hg19) ; chr6:g.112109579G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112109579G>T , CM000668.2:g.112109579G>T	GRCh38
NC_000006.11:g.112430782G>T , CM000668.1:g.112430782G>T	GRCh37
NC_000006.10:g.112537475G>T	NCBI36
NG_008209.1:g.150047C>A , LRG_433:g.150047C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.5330C>A MANE Select	ENSP00000230538.7:p.Ser1777Tyr
ENST00000389463.9:c.5309C>A	ENSP00000374114.4:p.Ser1770Tyr
ENST00000651529.1:c.1348C>A
ENST00000651860.1:c.3053C>A	ENSP00000498842.1:p.Ser1018Tyr
ENST00000230538.11:c.5330C>A	ENSP00000230538.7:p.Ser1777Tyr
ENST00000389463.8:c.5309C>A	ENSP00000374114.4:p.Ser1770Tyr
ENST00000424408.6:c.5309C>A	ENSP00000416470.2:p.Ser1770Tyr
ENST00000522006.5:c.5309C>A	ENSP00000429488.1:p.Ser1770Tyr
NM_001105206.2:c.5330C>A	NP_001098676.2:p.Ser1777Tyr
NM_001105207.2:c.5309C>A	NP_001098677.2:p.Ser1770Tyr
NM_002290.4:c.5309C>A	NP_002281.3:p.Ser1770Tyr
XM_005266983.3:c.5330C>A	XP_005267040.2:p.Ser1777Tyr
XM_005266984.3:c.5330C>A	XP_005267041.2:p.Ser1777Tyr
XM_005266983.4:c.5330C>A	XP_005267040.2:p.Ser1777Tyr
XM_005266984.4:c.5330C>A	XP_005267041.2:p.Ser1777Tyr
XM_017010854.2:c.5309C>A	XP_016866343.1:p.Ser1770Tyr
XR_001743406.2:n.5467C>A
XR_001743407.2:n.5446C>A
NM_001105206.3:c.5330C>A MANE Select	NP_001098676.2:p.Ser1777Tyr
NM_001105207.3:c.5309C>A	NP_001098677.2:p.Ser1770Tyr
NM_002290.5:c.5309C>A	NP_002281.3:p.Ser1770Tyr