Canonical Allele Identifier: CA402053020

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21487729A>T (hg19) ; chr18:g.23907765A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23907765A>T , CM000680.2:g.23907765A>T	GRCh38
NC_000018.9:g.21487729A>T , CM000680.1:g.21487729A>T	GRCh37
NC_000018.8:g.19741727A>T	NCBI36
NG_007853.2:g.223168A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.2018A>T MANE Plus Clinical	ENSP00000269217.5:p.Asp673Val
ENST00000313654.14:c.6845A>T MANE Select	ENSP00000324532.8:p.Asp2282Val
ENST00000649721.1:c.3611-1388A>T	ENSP00000497885.1:n.3611-1388A>T
ENST00000269217.10:c.2018A>T	ENSP00000269217.5:p.Asp673Val
ENST00000313654.13:c.6845A>T	ENSP00000324532.8:p.Asp2282Val
ENST00000399516.7:c.6677A>T	ENSP00000382432.2:p.Asp2226Val
ENST00000586751.5:c.1623A>T
ENST00000587184.5:c.1850A>T	ENSP00000466557.1:p.Asp617Val
ENST00000588770.5:n.1423A>T
NM_000227.4:c.2018A>T	NP_000218.3:p.Asp673Val
NM_001127717.2:c.6677A>T	NP_001121189.2:p.Asp2226Val
NM_001127718.2:c.1850A>T	NP_001121190.2:p.Asp617Val
NM_198129.2:c.6845A>T	NP_937762.2:p.Asp2282Val
XM_011525978.1:c.6872A>T	XP_011524280.1:p.Asp2291Val
XM_011525979.1:c.6863A>T	XP_011524281.1:p.Asp2288Val
XM_011525980.1:c.6854A>T	XP_011524282.1:p.Asp2285Val
XM_011525981.1:c.6740A>T	XP_011524283.1:p.Asp2247Val
XM_011525982.1:c.6746-1388A>T	XP_011524284.1:n.6746-1388A>T
XM_011525978.2:c.6872A>T	XP_011524280.1:p.Asp2291Val
XM_011525979.2:c.6863A>T	XP_011524281.1:p.Asp2288Val
XM_011525980.2:c.6854A>T	XP_011524282.1:p.Asp2285Val
XM_011525981.2:c.6740A>T	XP_011524283.1:p.Asp2247Val
XM_011525982.2:c.6746-1388A>T	XP_011524284.1:n.6746-1388A>T
XM_017025743.1:c.4724A>T	XP_016881232.1:p.Asp1575Val
XM_017025744.1:c.2414A>T	XP_016881233.1:p.Asp805Val
XR_001753199.1:n.7113A>T
NM_000227.5:c.2018A>T	NP_000218.3:p.Asp673Val
NM_001127717.3:c.6677A>T	NP_001121189.2:p.Asp2226Val
NM_001127718.3:c.1850A>T	NP_001121190.2:p.Asp617Val
NM_198129.3:c.6845A>T	NP_937762.2:p.Asp2282Val
NM_000227.6:c.2018A>T MANE Plus Clinical	NP_000218.3:p.Asp673Val
NM_001127717.4:c.6677A>T	NP_001121189.2:p.Asp2226Val
NM_001127718.4:c.1850A>T	NP_001121190.2:p.Asp617Val
NM_198129.4:c.6845A>T MANE Select	NP_937762.2:p.Asp2282Val