Canonical Allele Identifier: CA402059210

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21495319G>C (hg19) ; chr18:g.23915355G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915355G>C , CM000680.2:g.23915355G>C	GRCh38
NC_000018.9:g.21495319G>C , CM000680.1:g.21495319G>C	GRCh37
NC_000018.8:g.19749317G>C	NCBI36
NG_007853.2:g.230758G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2884G>C MANE Plus Clinical	ENSP00000269217.5:p.Val962Leu
ENST00000313654.14:c.7711G>C MANE Select	ENSP00000324532.8:p.Val2571Leu
ENST00000649721.1:c.4306G>C	ENSP00000497885.1:p.Val1436Leu
ENST00000269217.10:c.2884G>C	ENSP00000269217.5:p.Val962Leu
ENST00000313654.13:c.7711G>C	ENSP00000324532.8:p.Val2571Leu
ENST00000399516.7:c.7543G>C	ENSP00000382432.2:p.Val2515Leu
ENST00000586751.5:c.2489G>C
ENST00000587184.5:c.2716G>C	ENSP00000466557.1:p.Val906Leu
ENST00000588770.5:n.2289G>C
NM_000227.4:c.2884G>C	NP_000218.3:p.Val962Leu
NM_001127717.2:c.7543G>C	NP_001121189.2:p.Val2515Leu
NM_001127718.2:c.2716G>C	NP_001121190.2:p.Val906Leu
NM_198129.2:c.7711G>C	NP_937762.2:p.Val2571Leu
XM_011525978.1:c.7738G>C	XP_011524280.1:p.Val2580Leu
XM_011525979.1:c.7729G>C	XP_011524281.1:p.Val2577Leu
XM_011525980.1:c.7720G>C	XP_011524282.1:p.Val2574Leu
XM_011525981.1:c.7606G>C	XP_011524283.1:p.Val2536Leu
XM_011525982.1:c.7441G>C	XP_011524284.1:p.Val2481Leu
XM_011525978.2:c.7738G>C	XP_011524280.1:p.Val2580Leu
XM_011525979.2:c.7729G>C	XP_011524281.1:p.Val2577Leu
XM_011525980.2:c.7720G>C	XP_011524282.1:p.Val2574Leu
XM_011525981.2:c.7606G>C	XP_011524283.1:p.Val2536Leu
XM_011525982.2:c.7441G>C	XP_011524284.1:p.Val2481Leu
XM_017025743.1:c.5590G>C	XP_016881232.1:p.Val1864Leu
XM_017025744.1:c.3280G>C	XP_016881233.1:p.Val1094Leu
XR_001753199.1:n.7979G>C
NM_000227.5:c.2884G>C	NP_000218.3:p.Val962Leu
NM_001127717.3:c.7543G>C	NP_001121189.2:p.Val2515Leu
NM_001127718.3:c.2716G>C	NP_001121190.2:p.Val906Leu
NM_198129.3:c.7711G>C	NP_937762.2:p.Val2571Leu
NM_000227.6:c.2884G>C MANE Plus Clinical	NP_000218.3:p.Val962Leu
NM_001127717.4:c.7543G>C	NP_001121189.2:p.Val2515Leu
NM_001127718.4:c.2716G>C	NP_001121190.2:p.Val906Leu
NM_198129.4:c.7711G>C MANE Select	NP_937762.2:p.Val2571Leu