Canonical Allele Identifier: CA402063908

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21508634A>C (hg19) ; chr18:g.23928670A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928670A>C , CM000680.2:g.23928670A>C	GRCh38
NC_000018.9:g.21508634A>C , CM000680.1:g.21508634A>C	GRCh37
NC_000018.8:g.19762632A>C	NCBI36
NG_007853.2:g.244073A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3514A>C MANE Plus Clinical	ENSP00000269217.5:p.Thr1172Pro
ENST00000313654.14:c.8341A>C MANE Select	ENSP00000324532.8:p.Thr2781Pro
ENST00000649721.1:c.4936A>C	ENSP00000497885.1:p.Thr1646Pro
ENST00000269217.10:c.3514A>C	ENSP00000269217.5:p.Thr1172Pro
ENST00000313654.13:c.8341A>C	ENSP00000324532.8:p.Thr2781Pro
ENST00000399516.7:c.8173A>C	ENSP00000382432.2:p.Thr2725Pro
ENST00000586751.5:c.3119A>C
ENST00000587184.5:c.3346A>C	ENSP00000466557.1:p.Thr1116Pro
ENST00000588164.2:c.46A>C	ENSP00000467473.2:p.Thr16Pro
ENST00000588770.5:n.2919A>C
NM_000227.4:c.3514A>C	NP_000218.3:p.Thr1172Pro
NM_001127717.2:c.8173A>C	NP_001121189.2:p.Thr2725Pro
NM_001127718.2:c.3346A>C	NP_001121190.2:p.Thr1116Pro
NM_198129.2:c.8341A>C	NP_937762.2:p.Thr2781Pro
XM_011525978.1:c.8368A>C	XP_011524280.1:p.Thr2790Pro
XM_011525979.1:c.8359A>C	XP_011524281.1:p.Thr2787Pro
XM_011525980.1:c.8350A>C	XP_011524282.1:p.Thr2784Pro
XM_011525981.1:c.8236A>C	XP_011524283.1:p.Thr2746Pro
XM_011525982.1:c.8071A>C	XP_011524284.1:p.Thr2691Pro
XM_011525978.2:c.8368A>C	XP_011524280.1:p.Thr2790Pro
XM_011525979.2:c.8359A>C	XP_011524281.1:p.Thr2787Pro
XM_011525980.2:c.8350A>C	XP_011524282.1:p.Thr2784Pro
XM_011525981.2:c.8236A>C	XP_011524283.1:p.Thr2746Pro
XM_011525982.2:c.8071A>C	XP_011524284.1:p.Thr2691Pro
XM_017025743.1:c.6220A>C	XP_016881232.1:p.Thr2074Pro
XM_017025744.1:c.3910A>C	XP_016881233.1:p.Thr1304Pro
XR_001753199.1:n.8609A>C
NM_000227.5:c.3514A>C	NP_000218.3:p.Thr1172Pro
NM_001127717.3:c.8173A>C	NP_001121189.2:p.Thr2725Pro
NM_001127718.3:c.3346A>C	NP_001121190.2:p.Thr1116Pro
NM_198129.3:c.8341A>C	NP_937762.2:p.Thr2781Pro
NM_000227.6:c.3514A>C MANE Plus Clinical	NP_000218.3:p.Thr1172Pro
NM_001127717.4:c.8173A>C	NP_001121189.2:p.Thr2725Pro
NM_001127718.4:c.3346A>C	NP_001121190.2:p.Thr1116Pro
NM_198129.4:c.8341A>C MANE Select	NP_937762.2:p.Thr2781Pro