Canonical Allele Identifier: CA402051948

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21530029T>C (hg19) ; chr18:g.23950065T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23950065T>C , CM000680.2:g.23950065T>C	GRCh38
NC_000018.9:g.21530029T>C , CM000680.1:g.21530029T>C	GRCh37
NC_000018.8:g.19784027T>C	NCBI36
NG_007853.2:g.265468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4721T>C MANE Plus Clinical	ENSP00000269217.5:p.Val1574Ala
ENST00000313654.14:c.9548T>C MANE Select	ENSP00000324532.8:p.Val3183Ala
ENST00000649721.1:c.6143T>C	ENSP00000497885.1:p.Val2048Ala
ENST00000269217.10:c.4721T>C	ENSP00000269217.5:p.Val1574Ala
ENST00000313654.13:c.9548T>C	ENSP00000324532.8:p.Val3183Ala
ENST00000399516.7:c.9380T>C	ENSP00000382432.2:p.Val3127Ala
ENST00000587184.5:c.4553T>C	ENSP00000466557.1:p.Val1518Ala
ENST00000588004.1:c.69T>C
ENST00000588770.5:n.4126T>C
NM_000227.4:c.4721T>C	NP_000218.3:p.Val1574Ala
NM_001127717.2:c.9380T>C	NP_001121189.2:p.Val3127Ala
NM_001127718.2:c.4553T>C	NP_001121190.2:p.Val1518Ala
NM_198129.2:c.9548T>C	NP_937762.2:p.Val3183Ala
XM_011525978.1:c.9575T>C	XP_011524280.1:p.Val3192Ala
XM_011525979.1:c.9566T>C	XP_011524281.1:p.Val3189Ala
XM_011525980.1:c.9557T>C	XP_011524282.1:p.Val3186Ala
XM_011525981.1:c.9443T>C	XP_011524283.1:p.Val3148Ala
XM_011525982.1:c.9278T>C	XP_011524284.1:p.Val3093Ala
XM_011525978.2:c.9575T>C	XP_011524280.1:p.Val3192Ala
XM_011525979.2:c.9566T>C	XP_011524281.1:p.Val3189Ala
XM_011525980.2:c.9557T>C	XP_011524282.1:p.Val3186Ala
XM_011525981.2:c.9443T>C	XP_011524283.1:p.Val3148Ala
XM_011525982.2:c.9278T>C	XP_011524284.1:p.Val3093Ala
XM_017025743.1:c.7427T>C	XP_016881232.1:p.Val2476Ala
XM_017025744.1:c.5117T>C	XP_016881233.1:p.Val1706Ala
XR_001753199.1:n.9816T>C
NM_000227.5:c.4721T>C	NP_000218.3:p.Val1574Ala
NM_001127717.3:c.9380T>C	NP_001121189.2:p.Val3127Ala
NM_001127718.3:c.4553T>C	NP_001121190.2:p.Val1518Ala
NM_198129.3:c.9548T>C	NP_937762.2:p.Val3183Ala
NM_000227.6:c.4721T>C MANE Plus Clinical	NP_000218.3:p.Val1574Ala
NM_001127717.4:c.9380T>C	NP_001121189.2:p.Val3127Ala
NM_001127718.4:c.4553T>C	NP_001121190.2:p.Val1518Ala
NM_198129.4:c.9548T>C MANE Select	NP_937762.2:p.Val3183Ala