Canonical Allele Identifier: CA365370854

Gene: LAMA4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112172742C>A , CM000668.2:g.112172742C>A	GRCh38
NC_000006.11:g.112493944C>A , CM000668.1:g.112493944C>A	GRCh37
NC_000006.10:g.112600637C>A	NCBI36
NG_008209.1:g.86885G>T , LRG_433:g.86885G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001105206.3:c.1420G>T MANE Select	NP_001098676.2:p.Val474Phe
ENST00000230538.12:c.1420G>T MANE Select	ENSP00000230538.7:p.Val474Phe
NM_001105206.2:c.1420G>T	NP_001098676.2:p.Val474Phe
NM_001105207.2:c.1399G>T	NP_001098677.2:p.Val467Phe
NM_001105207.3:c.1399G>T	NP_001098677.2:p.Val467Phe
NM_002290.4:c.1399G>T	NP_002281.3:p.Val467Phe
NM_002290.5:c.1399G>T	NP_002281.3:p.Val467Phe
ENST00000230538.11:c.1420G>T	ENSP00000230538.7:p.Val474Phe
ENST00000389463.8:c.1399G>T	ENSP00000374114.4:p.Val467Phe
ENST00000389463.9:c.1399G>T	ENSP00000374114.4:p.Val467Phe
ENST00000424408.6:c.1399G>T	ENSP00000416470.2:p.Val467Phe
ENST00000521187.1:n.1613G>T
ENST00000522006.5:c.1399G>T	ENSP00000429488.1:p.Val467Phe
XM_005266983.3:c.1420G>T	XP_005267040.2:p.Val474Phe
XM_005266983.4:c.1420G>T	XP_005267040.2:p.Val474Phe
XM_005266984.3:c.1420G>T	XP_005267041.2:p.Val474Phe
XM_005266984.4:c.1420G>T	XP_005267041.2:p.Val474Phe
XM_011535821.1:c.1420G>T	XP_011534123.1:p.Val474Phe
XM_017010854.2:c.1399G>T	XP_016866343.1:p.Val467Phe
XR_001743406.2:n.1691G>T
XR_001743407.2:n.1670G>T