Canonical Allele Identifier: CA402044912

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21456288A>C (hg19) ; chr18:g.23876324A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876324A>C , CM000680.2:g.23876324A>C	GRCh38
NC_000018.9:g.21456288A>C , CM000680.1:g.21456288A>C	GRCh37
NC_000018.8:g.19710286A>C	NCBI36
NG_007853.2:g.191727A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.202A>C MANE Plus Clinical	ENSP00000269217.5:p.Lys68Gln
ENST00000313654.14:c.5029A>C MANE Select	ENSP00000324532.8:p.Lys1677Gln
ENST00000649721.1:c.1921A>C	ENSP00000497885.1:p.Lys641Gln
ENST00000269217.10:c.202A>C	ENSP00000269217.5:p.Lys68Gln
ENST00000313654.13:c.5029A>C	ENSP00000324532.8:p.Lys1677Gln
ENST00000399516.7:c.5029A>C	ENSP00000382432.2:p.Lys1677Gln
ENST00000587184.5:c.202A>C	ENSP00000466557.1:p.Lys68Gln
NM_000227.4:c.202A>C	NP_000218.3:p.Lys68Gln
NM_001127717.2:c.5029A>C	NP_001121189.2:p.Lys1677Gln
NM_001127718.2:c.202A>C	NP_001121190.2:p.Lys68Gln
NM_198129.2:c.5029A>C	NP_937762.2:p.Lys1677Gln
XM_011525978.1:c.5056A>C	XP_011524280.1:p.Lys1686Gln
XM_011525979.1:c.5047A>C	XP_011524281.1:p.Lys1683Gln
XM_011525980.1:c.5038A>C	XP_011524282.1:p.Lys1680Gln
XM_011525981.1:c.4924A>C	XP_011524283.1:p.Lys1642Gln
XM_011525982.1:c.5056A>C	XP_011524284.1:p.Lys1686Gln
XM_011525978.2:c.5056A>C	XP_011524280.1:p.Lys1686Gln
XM_011525979.2:c.5047A>C	XP_011524281.1:p.Lys1683Gln
XM_011525980.2:c.5038A>C	XP_011524282.1:p.Lys1680Gln
XM_011525981.2:c.4924A>C	XP_011524283.1:p.Lys1642Gln
XM_011525982.2:c.5056A>C	XP_011524284.1:p.Lys1686Gln
XM_017025743.1:c.2908A>C	XP_016881232.1:p.Lys970Gln
XM_017025744.1:c.598A>C	XP_016881233.1:p.Lys200Gln
XR_001753199.1:n.5297A>C
NM_000227.5:c.202A>C	NP_000218.3:p.Lys68Gln
NM_001127717.3:c.5029A>C	NP_001121189.2:p.Lys1677Gln
NM_001127718.3:c.202A>C	NP_001121190.2:p.Lys68Gln
NM_198129.3:c.5029A>C	NP_937762.2:p.Lys1677Gln
NM_000227.6:c.202A>C MANE Plus Clinical	NP_000218.3:p.Lys68Gln
NM_001127717.4:c.5029A>C	NP_001121189.2:p.Lys1677Gln
NM_001127718.4:c.202A>C	NP_001121190.2:p.Lys68Gln
NM_198129.4:c.5029A>C MANE Select	NP_937762.2:p.Lys1677Gln