Canonical Allele Identifier: CA402071482

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21444755T>C (hg19) ; chr18:g.23864791T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23864791T>C , CM000680.2:g.23864791T>C	GRCh38
NC_000018.9:g.21444755T>C , CM000680.1:g.21444755T>C	GRCh37
NC_000018.8:g.19698753T>C	NCBI36
NG_007853.2:g.180194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313654.14:c.4591T>C MANE Select	ENSP00000324532.8:p.Ser1531Pro
ENST00000649721.1:c.1483T>C	ENSP00000497885.1:p.Ser495Pro
ENST00000313654.13:c.4591T>C	ENSP00000324532.8:p.Ser1531Pro
ENST00000399516.7:c.4591T>C	ENSP00000382432.2:p.Ser1531Pro
NM_001127717.2:c.4591T>C	NP_001121189.2:p.Ser1531Pro
NM_198129.2:c.4591T>C	NP_937762.2:p.Ser1531Pro
XM_011525978.1:c.4618T>C	XP_011524280.1:p.Ser1540Pro
XM_011525979.1:c.4609T>C	XP_011524281.1:p.Ser1537Pro
XM_011525980.1:c.4600T>C	XP_011524282.1:p.Ser1534Pro
XM_011525981.1:c.4486T>C	XP_011524283.1:p.Ser1496Pro
XM_011525982.1:c.4618T>C	XP_011524284.1:p.Ser1540Pro
XM_011525978.2:c.4618T>C	XP_011524280.1:p.Ser1540Pro
XM_011525979.2:c.4609T>C	XP_011524281.1:p.Ser1537Pro
XM_011525980.2:c.4600T>C	XP_011524282.1:p.Ser1534Pro
XM_011525981.2:c.4486T>C	XP_011524283.1:p.Ser1496Pro
XM_011525982.2:c.4618T>C	XP_011524284.1:p.Ser1540Pro
XM_017025743.1:c.2470T>C	XP_016881232.1:p.Ser824Pro
XM_017025744.1:c.160T>C	XP_016881233.1:p.Ser54Pro
XR_001753199.1:n.4859T>C
NM_001127717.3:c.4591T>C	NP_001121189.2:p.Ser1531Pro
NM_198129.3:c.4591T>C	NP_937762.2:p.Ser1531Pro
NM_001127717.4:c.4591T>C	NP_001121189.2:p.Ser1531Pro
NM_198129.4:c.4591T>C MANE Select	NP_937762.2:p.Ser1531Pro