Canonical Allele Identifier: CA402046964

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21478955A>T (hg19) ; chr18:g.23898991A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23898991A>T , CM000680.2:g.23898991A>T	GRCh38
NC_000018.9:g.21478955A>T , CM000680.1:g.21478955A>T	GRCh37
NC_000018.8:g.19732953A>T	NCBI36
NG_007853.2:g.214394A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.935A>T MANE Plus Clinical	ENSP00000269217.5:p.Asn312Ile
ENST00000313654.14:c.5762A>T MANE Select	ENSP00000324532.8:p.Asn1921Ile
ENST00000649721.1:c.2654A>T	ENSP00000497885.1:p.Asn885Ile
ENST00000269217.10:c.935A>T	ENSP00000269217.5:p.Asn312Ile
ENST00000313654.13:c.5762A>T	ENSP00000324532.8:p.Asn1921Ile
ENST00000399516.7:c.5762A>T	ENSP00000382432.2:p.Asn1921Ile
ENST00000586709.1:n.150A>T
ENST00000586751.5:c.540A>T
ENST00000587184.5:c.935A>T	ENSP00000466557.1:p.Asn312Ile
ENST00000588770.5:n.340A>T
NM_000227.4:c.935A>T	NP_000218.3:p.Asn312Ile
NM_001127717.2:c.5762A>T	NP_001121189.2:p.Asn1921Ile
NM_001127718.2:c.935A>T	NP_001121190.2:p.Asn312Ile
NM_198129.2:c.5762A>T	NP_937762.2:p.Asn1921Ile
XM_011525978.1:c.5789A>T	XP_011524280.1:p.Asn1930Ile
XM_011525979.1:c.5780A>T	XP_011524281.1:p.Asn1927Ile
XM_011525980.1:c.5771A>T	XP_011524282.1:p.Asn1924Ile
XM_011525981.1:c.5657A>T	XP_011524283.1:p.Asn1886Ile
XM_011525982.1:c.5789A>T	XP_011524284.1:p.Asn1930Ile
XM_011525978.2:c.5789A>T	XP_011524280.1:p.Asn1930Ile
XM_011525979.2:c.5780A>T	XP_011524281.1:p.Asn1927Ile
XM_011525980.2:c.5771A>T	XP_011524282.1:p.Asn1924Ile
XM_011525981.2:c.5657A>T	XP_011524283.1:p.Asn1886Ile
XM_011525982.2:c.5789A>T	XP_011524284.1:p.Asn1930Ile
XM_017025743.1:c.3641A>T	XP_016881232.1:p.Asn1214Ile
XM_017025744.1:c.1331A>T	XP_016881233.1:p.Asn444Ile
XR_001753199.1:n.6030A>T
NM_000227.5:c.935A>T	NP_000218.3:p.Asn312Ile
NM_001127717.3:c.5762A>T	NP_001121189.2:p.Asn1921Ile
NM_001127718.3:c.935A>T	NP_001121190.2:p.Asn312Ile
NM_198129.3:c.5762A>T	NP_937762.2:p.Asn1921Ile
NM_000227.6:c.935A>T MANE Plus Clinical	NP_000218.3:p.Asn312Ile
NM_001127717.4:c.5762A>T	NP_001121189.2:p.Asn1921Ile
NM_001127718.4:c.935A>T	NP_001121190.2:p.Asn312Ile
NM_198129.4:c.5762A>T MANE Select	NP_937762.2:p.Asn1921Ile