Canonical Allele Identifier: CA402053040

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21487734A>T (hg19) ; chr18:g.23907770A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23907770A>T , CM000680.2:g.23907770A>T	GRCh38
NC_000018.9:g.21487734A>T , CM000680.1:g.21487734A>T	GRCh37
NC_000018.8:g.19741732A>T	NCBI36
NG_007853.2:g.223173A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.2023A>T MANE Plus Clinical	ENSP00000269217.5:p.Met675Leu
ENST00000313654.14:c.6850A>T MANE Select	ENSP00000324532.8:p.Met2284Leu
ENST00000649721.1:c.3611-1383A>T	ENSP00000497885.1:n.3611-1383A>T
ENST00000269217.10:c.2023A>T	ENSP00000269217.5:p.Met675Leu
ENST00000313654.13:c.6850A>T	ENSP00000324532.8:p.Met2284Leu
ENST00000399516.7:c.6682A>T	ENSP00000382432.2:p.Met2228Leu
ENST00000586751.5:c.1628A>T
ENST00000587184.5:c.1855A>T	ENSP00000466557.1:p.Met619Leu
ENST00000588770.5:n.1428A>T
NM_000227.4:c.2023A>T	NP_000218.3:p.Met675Leu
NM_001127717.2:c.6682A>T	NP_001121189.2:p.Met2228Leu
NM_001127718.2:c.1855A>T	NP_001121190.2:p.Met619Leu
NM_198129.2:c.6850A>T	NP_937762.2:p.Met2284Leu
XM_011525978.1:c.6877A>T	XP_011524280.1:p.Met2293Leu
XM_011525979.1:c.6868A>T	XP_011524281.1:p.Met2290Leu
XM_011525980.1:c.6859A>T	XP_011524282.1:p.Met2287Leu
XM_011525981.1:c.6745A>T	XP_011524283.1:p.Met2249Leu
XM_011525982.1:c.6746-1383A>T	XP_011524284.1:n.6746-1383A>T
XM_011525978.2:c.6877A>T	XP_011524280.1:p.Met2293Leu
XM_011525979.2:c.6868A>T	XP_011524281.1:p.Met2290Leu
XM_011525980.2:c.6859A>T	XP_011524282.1:p.Met2287Leu
XM_011525981.2:c.6745A>T	XP_011524283.1:p.Met2249Leu
XM_011525982.2:c.6746-1383A>T	XP_011524284.1:n.6746-1383A>T
XM_017025743.1:c.4729A>T	XP_016881232.1:p.Met1577Leu
XM_017025744.1:c.2419A>T	XP_016881233.1:p.Met807Leu
XR_001753199.1:n.7118A>T
NM_000227.5:c.2023A>T	NP_000218.3:p.Met675Leu
NM_001127717.3:c.6682A>T	NP_001121189.2:p.Met2228Leu
NM_001127718.3:c.1855A>T	NP_001121190.2:p.Met619Leu
NM_198129.3:c.6850A>T	NP_937762.2:p.Met2284Leu
NM_000227.6:c.2023A>T MANE Plus Clinical	NP_000218.3:p.Met675Leu
NM_001127717.4:c.6682A>T	NP_001121189.2:p.Met2228Leu
NM_001127718.4:c.1855A>T	NP_001121190.2:p.Met619Leu
NM_198129.4:c.6850A>T MANE Select	NP_937762.2:p.Met2284Leu