Canonical Allele Identifier: CA8916876
Community Standard Title: NM_198129.4(LAMA3):c.8241C>T (p.Val2747=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23928186C>T , CM000680.2:g.23928186C>T GRCh38
NC_000018.9:g.21508150C>T , CM000680.1:g.21508150C>T GRCh37
NC_000018.8:g.19762148C>T NCBI36
NG_007853.2:g.243589C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.8241C>T MANE Select NP_937762.2:p.Val2747=
ENST00000313654.14:c.8241C>T MANE Select ENSP00000324532.8:p.Val2747=
NM_000227.6:c.3414C>T MANE Plus Clinical NP_000218.3:p.Val1138=
ENST00000269217.11:c.3414C>T MANE Plus Clinical ENSP00000269217.5:p.Val1138=
NM_000227.4:c.3414C>T NP_000218.3:p.Val1138=
NM_000227.5:c.3414C>T NP_000218.3:p.Val1138=
NM_001127717.2:c.8073C>T NP_001121189.2:p.Val2691=
NM_001127717.3:c.8073C>T NP_001121189.2:p.Val2691=
NM_001127717.4:c.8073C>T NP_001121189.2:p.Val2691=
NM_001127718.2:c.3246C>T NP_001121190.2:p.Val1082=
NM_001127718.3:c.3246C>T NP_001121190.2:p.Val1082=
NM_001127718.4:c.3246C>T NP_001121190.2:p.Val1082=
NM_198129.2:c.8241C>T NP_937762.2:p.Val2747=
NM_198129.3:c.8241C>T NP_937762.2:p.Val2747=
ENST00000269217.10:c.3414C>T ENSP00000269217.5:p.Val1138=
ENST00000313654.13:c.8241C>T ENSP00000324532.8:p.Val2747=
ENST00000399516.7:c.8073C>T ENSP00000382432.2:p.Val2691=
ENST00000586751.5:c.3019C>T
ENST00000587184.5:c.3246C>T ENSP00000466557.1:p.Val1082=
ENST00000588770.5:n.2819C>T
ENST00000649721.1:c.4836C>T ENSP00000497885.1:p.Val1612=
XM_011525978.1:c.8268C>T XP_011524280.1:p.Val2756=
XM_011525978.2:c.8268C>T XP_011524280.1:p.Val2756=
XM_011525979.1:c.8259C>T XP_011524281.1:p.Val2753=
XM_011525979.2:c.8259C>T XP_011524281.1:p.Val2753=
XM_011525980.1:c.8250C>T XP_011524282.1:p.Val2750=
XM_011525980.2:c.8250C>T XP_011524282.1:p.Val2750=
XM_011525981.1:c.8136C>T XP_011524283.1:p.Val2712=
XM_011525981.2:c.8136C>T XP_011524283.1:p.Val2712=
XM_011525982.1:c.7971C>T XP_011524284.1:p.Val2657=
XM_011525982.2:c.7971C>T XP_011524284.1:p.Val2657=
XM_017025743.1:c.6120C>T XP_016881232.1:p.Val2040=
XM_017025744.1:c.3810C>T XP_016881233.1:p.Val1270=
XR_001753199.1:n.8509C>T