Canonical Allele Identifier: CA295679

Gene: LAMA4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112109459A>G , CM000668.2:g.112109459A>G	GRCh38
NC_000006.11:g.112430662A>G , CM000668.1:g.112430662A>G	GRCh37
NC_000006.10:g.112537355A>G	NCBI36
NG_008209.1:g.150167T>C , LRG_433:g.150167T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.5450T>C MANE Select	ENSP00000230538.7:p.Ile1817Thr
ENST00000389463.9:c.5429T>C	ENSP00000374114.4:p.Ile1810Thr
ENST00000651529.1:c.1468T>C
ENST00000651860.1:c.3173T>C	ENSP00000498842.1:p.Ile1058Thr
ENST00000230538.11:c.5450T>C	ENSP00000230538.7:p.Ile1817Thr
ENST00000389463.8:c.5429T>C	ENSP00000374114.4:p.Ile1810Thr
ENST00000424408.6:c.5429T>C	ENSP00000416470.2:p.Ile1810Thr
ENST00000522006.5:c.5429T>C	ENSP00000429488.1:p.Ile1810Thr
NM_001105206.2:c.5450T>C	NP_001098676.2:p.Ile1817Thr
NM_001105207.2:c.5429T>C	NP_001098677.2:p.Ile1810Thr
NM_002290.4:c.5429T>C	NP_002281.3:p.Ile1810Thr
XM_005266983.3:c.5450T>C	XP_005267040.2:p.Ile1817Thr
XM_005266984.3:c.5450T>C	XP_005267041.2:p.Ile1817Thr
XM_005266983.4:c.5450T>C	XP_005267040.2:p.Ile1817Thr
XM_005266984.4:c.5450T>C	XP_005267041.2:p.Ile1817Thr
XM_017010854.2:c.5429T>C	XP_016866343.1:p.Ile1810Thr
XR_001743406.2:n.5587T>C
XR_001743407.2:n.5566T>C
NM_001105206.3:c.5450T>C MANE Select	NP_001098676.2:p.Ile1817Thr
NM_001105207.3:c.5429T>C	NP_001098677.2:p.Ile1810Thr
NM_002290.5:c.5429T>C	NP_002281.3:p.Ile1810Thr