Canonical Allele Identifier: CA503336649
Gene: LAMA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.21485579C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23905615C>T , CM000680.2:g.23905615C>T GRCh38
NC_000018.9:g.21485579C>T , CM000680.1:g.21485579C>T GRCh37
NC_000018.8:g.19739577C>T NCBI36
NG_007853.2:g.221018C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.1882C>T MANE Plus Clinical ENSP00000269217.5:p.Leu628=
ENST00000313654.14:c.6709C>T MANE Select ENSP00000324532.8:p.Leu2237=
ENST00000649721.1:c.3601C>T ENSP00000497885.1:p.Leu1201=
ENST00000269217.10:c.1882C>T ENSP00000269217.5:p.Leu628=
ENST00000313654.13:c.6709C>T ENSP00000324532.8:p.Leu2237=
ENST00000399516.7:c.6541C>T ENSP00000382432.2:p.Leu2181=
ENST00000586751.5:c.1487C>T
ENST00000587184.5:c.1714C>T ENSP00000466557.1:p.Leu572=
ENST00000588770.5:n.1287C>T
NM_000227.4:c.1882C>T NP_000218.3:p.Leu628=
NM_001127717.2:c.6541C>T NP_001121189.2:p.Leu2181=
NM_001127718.2:c.1714C>T NP_001121190.2:p.Leu572=
NM_198129.2:c.6709C>T NP_937762.2:p.Leu2237=
XM_011525978.1:c.6736C>T XP_011524280.1:p.Leu2246=
XM_011525979.1:c.6727C>T XP_011524281.1:p.Leu2243=
XM_011525980.1:c.6718C>T XP_011524282.1:p.Leu2240=
XM_011525981.1:c.6604C>T XP_011524283.1:p.Leu2202=
XM_011525982.1:c.6736C>T XP_011524284.1:p.Leu2246=
XM_011525978.2:c.6736C>T XP_011524280.1:p.Leu2246=
XM_011525979.2:c.6727C>T XP_011524281.1:p.Leu2243=
XM_011525980.2:c.6718C>T XP_011524282.1:p.Leu2240=
XM_011525981.2:c.6604C>T XP_011524283.1:p.Leu2202=
XM_011525982.2:c.6736C>T XP_011524284.1:p.Leu2246=
XM_017025743.1:c.4588C>T XP_016881232.1:p.Leu1530=
XM_017025744.1:c.2278C>T XP_016881233.1:p.Leu760=
XR_001753199.1:n.6977C>T
NM_000227.5:c.1882C>T NP_000218.3:p.Leu628=
NM_001127717.3:c.6541C>T NP_001121189.2:p.Leu2181=
NM_001127718.3:c.1714C>T NP_001121190.2:p.Leu572=
NM_198129.3:c.6709C>T NP_937762.2:p.Leu2237=
NM_000227.6:c.1882C>T MANE Plus Clinical NP_000218.3:p.Leu628=
NM_001127717.4:c.6541C>T NP_001121189.2:p.Leu2181=
NM_001127718.4:c.1714C>T NP_001121190.2:p.Leu572=
NM_198129.4:c.6709C>T MANE Select NP_937762.2:p.Leu2237=