Canonical Allele Identifier: CA402063903

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21508632T>C (hg19) ; chr18:g.23928668T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928668T>C , CM000680.2:g.23928668T>C	GRCh38
NC_000018.9:g.21508632T>C , CM000680.1:g.21508632T>C	GRCh37
NC_000018.8:g.19762630T>C	NCBI36
NG_007853.2:g.244071T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3512T>C MANE Plus Clinical	ENSP00000269217.5:p.Phe1171Ser
ENST00000313654.14:c.8339T>C MANE Select	ENSP00000324532.8:p.Phe2780Ser
ENST00000649721.1:c.4934T>C	ENSP00000497885.1:p.Phe1645Ser
ENST00000269217.10:c.3512T>C	ENSP00000269217.5:p.Phe1171Ser
ENST00000313654.13:c.8339T>C	ENSP00000324532.8:p.Phe2780Ser
ENST00000399516.7:c.8171T>C	ENSP00000382432.2:p.Phe2724Ser
ENST00000586751.5:c.3117T>C
ENST00000587184.5:c.3344T>C	ENSP00000466557.1:p.Phe1115Ser
ENST00000588164.2:c.44T>C	ENSP00000467473.2:p.Phe15Ser
ENST00000588770.5:n.2917T>C
NM_000227.4:c.3512T>C	NP_000218.3:p.Phe1171Ser
NM_001127717.2:c.8171T>C	NP_001121189.2:p.Phe2724Ser
NM_001127718.2:c.3344T>C	NP_001121190.2:p.Phe1115Ser
NM_198129.2:c.8339T>C	NP_937762.2:p.Phe2780Ser
XM_011525978.1:c.8366T>C	XP_011524280.1:p.Phe2789Ser
XM_011525979.1:c.8357T>C	XP_011524281.1:p.Phe2786Ser
XM_011525980.1:c.8348T>C	XP_011524282.1:p.Phe2783Ser
XM_011525981.1:c.8234T>C	XP_011524283.1:p.Phe2745Ser
XM_011525982.1:c.8069T>C	XP_011524284.1:p.Phe2690Ser
XM_011525978.2:c.8366T>C	XP_011524280.1:p.Phe2789Ser
XM_011525979.2:c.8357T>C	XP_011524281.1:p.Phe2786Ser
XM_011525980.2:c.8348T>C	XP_011524282.1:p.Phe2783Ser
XM_011525981.2:c.8234T>C	XP_011524283.1:p.Phe2745Ser
XM_011525982.2:c.8069T>C	XP_011524284.1:p.Phe2690Ser
XM_017025743.1:c.6218T>C	XP_016881232.1:p.Phe2073Ser
XM_017025744.1:c.3908T>C	XP_016881233.1:p.Phe1303Ser
XR_001753199.1:n.8607T>C
NM_000227.5:c.3512T>C	NP_000218.3:p.Phe1171Ser
NM_001127717.3:c.8171T>C	NP_001121189.2:p.Phe2724Ser
NM_001127718.3:c.3344T>C	NP_001121190.2:p.Phe1115Ser
NM_198129.3:c.8339T>C	NP_937762.2:p.Phe2780Ser
NM_000227.6:c.3512T>C MANE Plus Clinical	NP_000218.3:p.Phe1171Ser
NM_001127717.4:c.8171T>C	NP_001121189.2:p.Phe2724Ser
NM_001127718.4:c.3344T>C	NP_001121190.2:p.Phe1115Ser
NM_198129.4:c.8339T>C MANE Select	NP_937762.2:p.Phe2780Ser