Canonical Allele Identifier: CA402051848

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21529883T>C (hg19) ; chr18:g.23949919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23949919T>C , CM000680.2:g.23949919T>C	GRCh38
NC_000018.9:g.21529883T>C , CM000680.1:g.21529883T>C	GRCh37
NC_000018.8:g.19783881T>C	NCBI36
NG_007853.2:g.265322T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4679T>C MANE Plus Clinical	ENSP00000269217.5:p.Val1560Ala
ENST00000313654.14:c.9506T>C MANE Select	ENSP00000324532.8:p.Val3169Ala
ENST00000649721.1:c.6101T>C	ENSP00000497885.1:p.Val2034Ala
ENST00000269217.10:c.4679T>C	ENSP00000269217.5:p.Val1560Ala
ENST00000313654.13:c.9506T>C	ENSP00000324532.8:p.Val3169Ala
ENST00000399516.7:c.9338T>C	ENSP00000382432.2:p.Val3113Ala
ENST00000587184.5:c.4511T>C	ENSP00000466557.1:p.Val1504Ala
ENST00000588004.1:c.27T>C
ENST00000588770.5:n.4084T>C
NM_000227.4:c.4679T>C	NP_000218.3:p.Val1560Ala
NM_001127717.2:c.9338T>C	NP_001121189.2:p.Val3113Ala
NM_001127718.2:c.4511T>C	NP_001121190.2:p.Val1504Ala
NM_198129.2:c.9506T>C	NP_937762.2:p.Val3169Ala
XM_011525978.1:c.9533T>C	XP_011524280.1:p.Val3178Ala
XM_011525979.1:c.9524T>C	XP_011524281.1:p.Val3175Ala
XM_011525980.1:c.9515T>C	XP_011524282.1:p.Val3172Ala
XM_011525981.1:c.9401T>C	XP_011524283.1:p.Val3134Ala
XM_011525982.1:c.9236T>C	XP_011524284.1:p.Val3079Ala
XM_011525978.2:c.9533T>C	XP_011524280.1:p.Val3178Ala
XM_011525979.2:c.9524T>C	XP_011524281.1:p.Val3175Ala
XM_011525980.2:c.9515T>C	XP_011524282.1:p.Val3172Ala
XM_011525981.2:c.9401T>C	XP_011524283.1:p.Val3134Ala
XM_011525982.2:c.9236T>C	XP_011524284.1:p.Val3079Ala
XM_017025743.1:c.7385T>C	XP_016881232.1:p.Val2462Ala
XM_017025744.1:c.5075T>C	XP_016881233.1:p.Val1692Ala
XR_001753199.1:n.9774T>C
NM_000227.5:c.4679T>C	NP_000218.3:p.Val1560Ala
NM_001127717.3:c.9338T>C	NP_001121189.2:p.Val3113Ala
NM_001127718.3:c.4511T>C	NP_001121190.2:p.Val1504Ala
NM_198129.3:c.9506T>C	NP_937762.2:p.Val3169Ala
NM_000227.6:c.4679T>C MANE Plus Clinical	NP_000218.3:p.Val1560Ala
NM_001127717.4:c.9338T>C	NP_001121189.2:p.Val3113Ala
NM_001127718.4:c.4511T>C	NP_001121190.2:p.Val1504Ala
NM_198129.4:c.9506T>C MANE Select	NP_937762.2:p.Val3169Ala