Canonical Allele Identifier: CA3965128

Gene: LAMA4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112132768G>T , CM000668.2:g.112132768G>T	GRCh38
NC_000006.11:g.112453970G>T , CM000668.1:g.112453970G>T	GRCh37
NC_000006.10:g.112560663G>T	NCBI36
NG_008209.1:g.126859C>A , LRG_433:g.126859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230538.12:c.3819C>A MANE Select	ENSP00000230538.7:p.Phe1273Leu
ENST00000389463.9:c.3798C>A	ENSP00000374114.4:p.Phe1266Leu
ENST00000651529.1:c.25C>A
ENST00000651860.1:c.1689C>A	ENSP00000498842.1:p.Phe563Leu
ENST00000230538.11:c.3819C>A	ENSP00000230538.7:p.Phe1273Leu
ENST00000389463.8:c.3798C>A	ENSP00000374114.4:p.Phe1266Leu
ENST00000424408.6:c.3798C>A	ENSP00000416470.2:p.Phe1266Leu
ENST00000522006.5:c.3798C>A	ENSP00000429488.1:p.Phe1266Leu
NM_001105206.2:c.3819C>A	NP_001098676.2:p.Phe1273Leu
NM_001105207.2:c.3798C>A	NP_001098677.2:p.Phe1266Leu
NM_002290.4:c.3798C>A	NP_002281.3:p.Phe1266Leu
XM_005266983.3:c.3819C>A	XP_005267040.2:p.Phe1273Leu
XM_005266984.3:c.3819C>A	XP_005267041.2:p.Phe1273Leu
XM_011535821.1:c.3819C>A	XP_011534123.1:p.Phe1273Leu
XM_005266983.4:c.3819C>A	XP_005267040.2:p.Phe1273Leu
XM_005266984.4:c.3819C>A	XP_005267041.2:p.Phe1273Leu
XM_017010854.2:c.3798C>A	XP_016866343.1:p.Phe1266Leu
XR_001743406.2:n.4090C>A
XR_001743407.2:n.4069C>A
XR_001744299.1:n.428+16341G>T
NM_001105206.3:c.3819C>A MANE Select	NP_001098676.2:p.Phe1273Leu
NM_001105207.3:c.3798C>A	NP_001098677.2:p.Phe1266Leu
NM_002290.5:c.3798C>A	NP_002281.3:p.Phe1266Leu