Canonical Allele Identifier: CA8916932

Gene: LAMA3

Linked Data

• dbSNP Id: rs769496838
• ExAC: 18:21511093 C / T
• gnomAD v2: 18-21511093-C-T
• gnomAD v4: 18-23931129-C-T
• MyVariant Identifiers: chr18:g.21511093C>T (hg19) ; chr18:g.23931129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23931129C>T , CM000680.2:g.23931129C>T	GRCh38
NC_000018.9:g.21511093C>T , CM000680.1:g.21511093C>T	GRCh37
NC_000018.8:g.19765091C>T	NCBI36
NG_007853.2:g.246532C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3677C>T MANE Plus Clinical	ENSP00000269217.5:p.Pro1226Leu
ENST00000313654.14:c.8504C>T MANE Select	ENSP00000324532.8:p.Pro2835Leu
ENST00000649721.1:c.5099C>T	ENSP00000497885.1:p.Pro1700Leu
ENST00000269217.10:c.3677C>T	ENSP00000269217.5:p.Pro1226Leu
ENST00000313654.13:c.8504C>T	ENSP00000324532.8:p.Pro2835Leu
ENST00000399516.7:c.8336C>T	ENSP00000382432.2:p.Pro2779Leu
ENST00000586751.5:c.3282C>T
ENST00000587184.5:c.3509C>T	ENSP00000466557.1:p.Pro1170Leu
ENST00000588164.2:c.209C>T	ENSP00000467473.2:p.Pro70Leu
ENST00000588770.5:n.3082C>T
NM_000227.4:c.3677C>T	NP_000218.3:p.Pro1226Leu
NM_001127717.2:c.8336C>T	NP_001121189.2:p.Pro2779Leu
NM_001127718.2:c.3509C>T	NP_001121190.2:p.Pro1170Leu
NM_198129.2:c.8504C>T	NP_937762.2:p.Pro2835Leu
XM_011525978.1:c.8531C>T	XP_011524280.1:p.Pro2844Leu
XM_011525979.1:c.8522C>T	XP_011524281.1:p.Pro2841Leu
XM_011525980.1:c.8513C>T	XP_011524282.1:p.Pro2838Leu
XM_011525981.1:c.8399C>T	XP_011524283.1:p.Pro2800Leu
XM_011525982.1:c.8234C>T	XP_011524284.1:p.Pro2745Leu
XM_011525978.2:c.8531C>T	XP_011524280.1:p.Pro2844Leu
XM_011525979.2:c.8522C>T	XP_011524281.1:p.Pro2841Leu
XM_011525980.2:c.8513C>T	XP_011524282.1:p.Pro2838Leu
XM_011525981.2:c.8399C>T	XP_011524283.1:p.Pro2800Leu
XM_011525982.2:c.8234C>T	XP_011524284.1:p.Pro2745Leu
XM_017025743.1:c.6383C>T	XP_016881232.1:p.Pro2128Leu
XM_017025744.1:c.4073C>T	XP_016881233.1:p.Pro1358Leu
XR_001753199.1:n.8772C>T
NM_000227.5:c.3677C>T	NP_000218.3:p.Pro1226Leu
NM_001127717.3:c.8336C>T	NP_001121189.2:p.Pro2779Leu
NM_001127718.3:c.3509C>T	NP_001121190.2:p.Pro1170Leu
NM_198129.3:c.8504C>T	NP_937762.2:p.Pro2835Leu
NM_000227.6:c.3677C>T MANE Plus Clinical	NP_000218.3:p.Pro1226Leu
NM_001127717.4:c.8336C>T	NP_001121189.2:p.Pro2779Leu
NM_001127718.4:c.3509C>T	NP_001121190.2:p.Pro1170Leu
NM_198129.4:c.8504C>T MANE Select	NP_937762.2:p.Pro2835Leu