Canonical Allele Identifier: CA451593888

Gene: LAMA4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112117851G>A , CM000668.2:g.112117851G>A	GRCh38
NC_000006.11:g.112439054G>A , CM000668.1:g.112439054G>A	GRCh37
NC_000006.10:g.112545747G>A	NCBI36
NG_008209.1:g.141775C>T , LRG_433:g.141775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.4869C>T MANE Select	ENSP00000230538.7:p.Leu1623=
ENST00000389463.9:c.4848C>T	ENSP00000374114.4:p.Leu1616=
ENST00000651529.1:c.887C>T
ENST00000651860.1:c.2592C>T	ENSP00000498842.1:p.Leu864=
ENST00000230538.11:c.4869C>T	ENSP00000230538.7:p.Leu1623=
ENST00000389463.8:c.4848C>T	ENSP00000374114.4:p.Leu1616=
ENST00000424408.6:c.4848C>T	ENSP00000416470.2:p.Leu1616=
ENST00000522006.5:c.4848C>T	ENSP00000429488.1:p.Leu1616=
NM_001105206.2:c.4869C>T	NP_001098676.2:p.Leu1623=
NM_001105207.2:c.4848C>T	NP_001098677.2:p.Leu1616=
NM_002290.4:c.4848C>T	NP_002281.3:p.Leu1616=
XM_005266983.3:c.4869C>T	XP_005267040.2:p.Leu1623=
XM_005266984.3:c.4869C>T	XP_005267041.2:p.Leu1623=
XM_005266983.4:c.4869C>T	XP_005267040.2:p.Leu1623=
XM_005266984.4:c.4869C>T	XP_005267041.2:p.Leu1623=
XM_017010854.2:c.4848C>T	XP_016866343.1:p.Leu1616=
XR_001743406.2:n.5006C>T
XR_001743407.2:n.4985C>T
XR_001744299.1:n.428+1424G>A
NM_001105206.3:c.4869C>T MANE Select	NP_001098676.2:p.Leu1623=
NM_001105207.3:c.4848C>T	NP_001098677.2:p.Leu1616=
NM_002290.5:c.4848C>T	NP_002281.3:p.Leu1616=