Canonical Allele Identifier: CA402046473

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23898818-G-T
• MyVariant Identifiers: chr18:g.21478782G>T (hg19) ; chr18:g.23898818G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23898818G>T , CM000680.2:g.23898818G>T	GRCh38
NC_000018.9:g.21478782G>T , CM000680.1:g.21478782G>T	GRCh37
NC_000018.8:g.19732780G>T	NCBI36
NG_007853.2:g.214221G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.867G>T MANE Plus Clinical	ENSP00000269217.5:p.Leu289Phe
ENST00000313654.14:c.5694G>T MANE Select	ENSP00000324532.8:p.Leu1898Phe
ENST00000649721.1:c.2586G>T	ENSP00000497885.1:p.Leu862Phe
ENST00000269217.10:c.867G>T	ENSP00000269217.5:p.Leu289Phe
ENST00000313654.13:c.5694G>T	ENSP00000324532.8:p.Leu1898Phe
ENST00000399516.7:c.5694G>T	ENSP00000382432.2:p.Leu1898Phe
ENST00000586709.1:n.82G>T
ENST00000586751.5:c.472G>T
ENST00000587184.5:c.867G>T	ENSP00000466557.1:p.Leu289Phe
ENST00000588770.5:n.272G>T
NM_000227.4:c.867G>T	NP_000218.3:p.Leu289Phe
NM_001127717.2:c.5694G>T	NP_001121189.2:p.Leu1898Phe
NM_001127718.2:c.867G>T	NP_001121190.2:p.Leu289Phe
NM_198129.2:c.5694G>T	NP_937762.2:p.Leu1898Phe
XM_011525978.1:c.5721G>T	XP_011524280.1:p.Leu1907Phe
XM_011525979.1:c.5712G>T	XP_011524281.1:p.Leu1904Phe
XM_011525980.1:c.5703G>T	XP_011524282.1:p.Leu1901Phe
XM_011525981.1:c.5589G>T	XP_011524283.1:p.Leu1863Phe
XM_011525982.1:c.5721G>T	XP_011524284.1:p.Leu1907Phe
XM_011525978.2:c.5721G>T	XP_011524280.1:p.Leu1907Phe
XM_011525979.2:c.5712G>T	XP_011524281.1:p.Leu1904Phe
XM_011525980.2:c.5703G>T	XP_011524282.1:p.Leu1901Phe
XM_011525981.2:c.5589G>T	XP_011524283.1:p.Leu1863Phe
XM_011525982.2:c.5721G>T	XP_011524284.1:p.Leu1907Phe
XM_017025743.1:c.3573G>T	XP_016881232.1:p.Leu1191Phe
XM_017025744.1:c.1263G>T	XP_016881233.1:p.Leu421Phe
XR_001753199.1:n.5962G>T
NM_000227.5:c.867G>T	NP_000218.3:p.Leu289Phe
NM_001127717.3:c.5694G>T	NP_001121189.2:p.Leu1898Phe
NM_001127718.3:c.867G>T	NP_001121190.2:p.Leu289Phe
NM_198129.3:c.5694G>T	NP_937762.2:p.Leu1898Phe
NM_000227.6:c.867G>T MANE Plus Clinical	NP_000218.3:p.Leu289Phe
NM_001127717.4:c.5694G>T	NP_001121189.2:p.Leu1898Phe
NM_001127718.4:c.867G>T	NP_001121190.2:p.Leu289Phe
NM_198129.4:c.5694G>T MANE Select	NP_937762.2:p.Leu1898Phe