Canonical Allele Identifier: CA3965648
Community Standard Title: NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr)
Gene: LAMA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112155657C>T , CM000668.2:g.112155657C>T GRCh38
NC_000006.11:g.112476859C>T , CM000668.1:g.112476859C>T GRCh37
NC_000006.10:g.112583552C>T NCBI36
NG_008209.1:g.103970G>A , LRG_433:g.103970G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001105206.3:c.1867G>A MANE Select NP_001098676.2:p.Ala623Thr
ENST00000230538.12:c.1867G>A MANE Select ENSP00000230538.7:p.Ala623Thr
NM_001105206.2:c.1867G>A NP_001098676.2:p.Ala623Thr
NM_001105207.2:c.1846G>A NP_001098677.2:p.Ala616Thr
NM_001105207.3:c.1846G>A NP_001098677.2:p.Ala616Thr
NM_002290.4:c.1846G>A NP_002281.3:p.Ala616Thr
NM_002290.5:c.1846G>A NP_002281.3:p.Ala616Thr
ENST00000230538.11:c.1867G>A ENSP00000230538.7:p.Ala623Thr
ENST00000389463.8:c.1846G>A ENSP00000374114.4:p.Ala616Thr
ENST00000389463.9:c.1846G>A ENSP00000374114.4:p.Ala616Thr
ENST00000424408.6:c.1846G>A ENSP00000416470.2:p.Ala616Thr
ENST00000522006.5:c.1846G>A ENSP00000429488.1:p.Ala616Thr
ENST00000523765.1:c.204G>A
XM_005266983.3:c.1867G>A XP_005267040.2:p.Ala623Thr
XM_005266983.4:c.1867G>A XP_005267040.2:p.Ala623Thr
XM_005266984.3:c.1867G>A XP_005267041.2:p.Ala623Thr
XM_005266984.4:c.1867G>A XP_005267041.2:p.Ala623Thr
XM_011535821.1:c.1867G>A XP_011534123.1:p.Ala623Thr
XM_017010854.2:c.1846G>A XP_016866343.1:p.Ala616Thr
XR_001743406.2:n.2138G>A
XR_001743407.2:n.2117G>A
XR_001744299.1:n.766C>T