Canonical Allele Identifier: CA365363793
Gene: LAMA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112109574G>T , CM000668.2:g.112109574G>T GRCh38
NC_000006.11:g.112430777G>T , CM000668.1:g.112430777G>T GRCh37
NC_000006.10:g.112537470G>T NCBI36
NG_008209.1:g.150052C>A , LRG_433:g.150052C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230538.12:c.5335C>A MANE Select ENSP00000230538.7:p.Leu1779Met
ENST00000389463.9:c.5314C>A ENSP00000374114.4:p.Leu1772Met
ENST00000651529.1:c.1353C>A
ENST00000651860.1:c.3058C>A ENSP00000498842.1:p.Leu1020Met
ENST00000230538.11:c.5335C>A ENSP00000230538.7:p.Leu1779Met
ENST00000389463.8:c.5314C>A ENSP00000374114.4:p.Leu1772Met
ENST00000424408.6:c.5314C>A ENSP00000416470.2:p.Leu1772Met
ENST00000522006.5:c.5314C>A ENSP00000429488.1:p.Leu1772Met
NM_001105206.2:c.5335C>A NP_001098676.2:p.Leu1779Met
NM_001105207.2:c.5314C>A NP_001098677.2:p.Leu1772Met
NM_002290.4:c.5314C>A NP_002281.3:p.Leu1772Met
XM_005266983.3:c.5335C>A XP_005267040.2:p.Leu1779Met
XM_005266984.3:c.5335C>A XP_005267041.2:p.Leu1779Met
XM_005266983.4:c.5335C>A XP_005267040.2:p.Leu1779Met
XM_005266984.4:c.5335C>A XP_005267041.2:p.Leu1779Met
XM_017010854.2:c.5314C>A XP_016866343.1:p.Leu1772Met
XR_001743406.2:n.5472C>A
XR_001743407.2:n.5451C>A
NM_001105206.3:c.5335C>A MANE Select NP_001098676.2:p.Leu1779Met
NM_001105207.3:c.5314C>A NP_001098677.2:p.Leu1772Met
NM_002290.5:c.5314C>A NP_002281.3:p.Leu1772Met