Canonical Allele Identifier: CA402063900

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21508631T>C (hg19) ; chr18:g.23928667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928667T>C , CM000680.2:g.23928667T>C	GRCh38
NC_000018.9:g.21508631T>C , CM000680.1:g.21508631T>C	GRCh37
NC_000018.8:g.19762629T>C	NCBI36
NG_007853.2:g.244070T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3511T>C MANE Plus Clinical	ENSP00000269217.5:p.Phe1171Leu
ENST00000313654.14:c.8338T>C MANE Select	ENSP00000324532.8:p.Phe2780Leu
ENST00000649721.1:c.4933T>C	ENSP00000497885.1:p.Phe1645Leu
ENST00000269217.10:c.3511T>C	ENSP00000269217.5:p.Phe1171Leu
ENST00000313654.13:c.8338T>C	ENSP00000324532.8:p.Phe2780Leu
ENST00000399516.7:c.8170T>C	ENSP00000382432.2:p.Phe2724Leu
ENST00000586751.5:c.3116T>C
ENST00000587184.5:c.3343T>C	ENSP00000466557.1:p.Phe1115Leu
ENST00000588164.2:c.43T>C	ENSP00000467473.2:p.Phe15Leu
ENST00000588770.5:n.2916T>C
NM_000227.4:c.3511T>C	NP_000218.3:p.Phe1171Leu
NM_001127717.2:c.8170T>C	NP_001121189.2:p.Phe2724Leu
NM_001127718.2:c.3343T>C	NP_001121190.2:p.Phe1115Leu
NM_198129.2:c.8338T>C	NP_937762.2:p.Phe2780Leu
XM_011525978.1:c.8365T>C	XP_011524280.1:p.Phe2789Leu
XM_011525979.1:c.8356T>C	XP_011524281.1:p.Phe2786Leu
XM_011525980.1:c.8347T>C	XP_011524282.1:p.Phe2783Leu
XM_011525981.1:c.8233T>C	XP_011524283.1:p.Phe2745Leu
XM_011525982.1:c.8068T>C	XP_011524284.1:p.Phe2690Leu
XM_011525978.2:c.8365T>C	XP_011524280.1:p.Phe2789Leu
XM_011525979.2:c.8356T>C	XP_011524281.1:p.Phe2786Leu
XM_011525980.2:c.8347T>C	XP_011524282.1:p.Phe2783Leu
XM_011525981.2:c.8233T>C	XP_011524283.1:p.Phe2745Leu
XM_011525982.2:c.8068T>C	XP_011524284.1:p.Phe2690Leu
XM_017025743.1:c.6217T>C	XP_016881232.1:p.Phe2073Leu
XM_017025744.1:c.3907T>C	XP_016881233.1:p.Phe1303Leu
XR_001753199.1:n.8606T>C
NM_000227.5:c.3511T>C	NP_000218.3:p.Phe1171Leu
NM_001127717.3:c.8170T>C	NP_001121189.2:p.Phe2724Leu
NM_001127718.3:c.3343T>C	NP_001121190.2:p.Phe1115Leu
NM_198129.3:c.8338T>C	NP_937762.2:p.Phe2780Leu
NM_000227.6:c.3511T>C MANE Plus Clinical	NP_000218.3:p.Phe1171Leu
NM_001127717.4:c.8170T>C	NP_001121189.2:p.Phe2724Leu
NM_001127718.4:c.3343T>C	NP_001121190.2:p.Phe1115Leu
NM_198129.4:c.8338T>C MANE Select	NP_937762.2:p.Phe2780Leu