Canonical Allele Identifier: CA346676019

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43948142-G-T
• MyVariant Identifiers: chr2:g.44175281G>T (hg19) ; chr2:g.43948142G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948142G>T , CM000664.2:g.43948142G>T	GRCh38
NC_000002.11:g.44175281G>T , CM000664.1:g.44175281G>T	GRCh37
NC_000002.10:g.44028785G>T	NCBI36
NG_008247.1:g.52864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1900C>A	ENSP00000386562.2:p.His634Asn
ENST00000447246.2:c.1900C>A	ENSP00000403637.2:p.His634Asn
ENST00000681959.1:n.1514C>A
ENST00000681961.1:n.1920C>A
ENST00000682104.1:c.1774C>A	ENSP00000507716.1:p.His592Asn
ENST00000682303.1:c.*1772C>A	ENSP00000508325.1:n.*1772C>A
ENST00000682308.1:c.1900C>A	ENSP00000507056.1:p.His634Asn
ENST00000682480.1:c.1900C>A	ENSP00000508344.1:p.His634Asn
ENST00000682546.1:c.1897C>A	ENSP00000508188.1:p.His633Asn
ENST00000682585.1:c.1900C>A	ENSP00000506885.1:p.His634Asn
ENST00000682595.1:n.2482C>A
ENST00000682607.1:c.318C>A
ENST00000682779.1:c.1891C>A	ENSP00000507947.1:p.His631Asn
ENST00000682885.1:c.1900C>A	ENSP00000508036.1:p.His634Asn
ENST00000682933.1:n.1974C>A
ENST00000683072.1:n.2482C>A
ENST00000683082.1:n.1918C>A
ENST00000683125.1:c.1900C>A	ENSP00000507939.1:p.His634Asn
ENST00000683213.1:c.1903C>A	ENSP00000507751.1:p.His635Asn
ENST00000683220.1:c.1930C>A	ENSP00000507151.1:p.His644Asn
ENST00000683329.1:n.2703C>A
ENST00000683346.1:c.*1775C>A	ENSP00000507458.1:n.*1775C>A
ENST00000683459.1:n.2487C>A
ENST00000683590.1:c.1900C>A	ENSP00000506820.1:p.His634Asn
ENST00000683623.1:c.1900C>A	ENSP00000507702.1:p.His634Asn
ENST00000683645.1:n.2451C>A
ENST00000683694.1:n.651C>A
ENST00000683796.1:c.*1772C>A	ENSP00000508221.1:n.*1772C>A
ENST00000683802.1:n.4825C>A
ENST00000683833.1:c.1891C>A	ENSP00000506852.1:p.His631Asn
ENST00000683934.1:c.1786C>A
ENST00000683989.1:c.1900C>A	ENSP00000507510.1:p.His634Asn
ENST00000683994.1:c.1900C>A	ENSP00000507181.1:p.His634Asn
ENST00000684290.1:c.1900C>A	ENSP00000507243.1:p.His634Asn
ENST00000684306.1:c.*1813C>A	ENSP00000508384.1:n.*1813C>A
ENST00000684341.1:n.1920C>A
ENST00000684383.1:c.*1538C>A	ENSP00000506863.1:n.*1538C>A
ENST00000684482.1:c.4369C>A
ENST00000684619.1:c.*1772C>A	ENSP00000508088.1:n.*1772C>A
ENST00000684743.1:n.2931C>A
ENST00000260665.12:c.1900C>A MANE Select	ENSP00000260665.7:p.His634Asn
ENST00000260665.11:c.1900C>A	ENSP00000260665.7:p.His634Asn
NM_133259.3:c.1900C>A	NP_573566.2:p.His634Asn
XM_006711915.2:c.1822C>A	XP_006711978.1:p.His608Asn
XM_006711916.2:c.1900C>A	XP_006711979.1:p.His634Asn
XM_011532473.1:c.1900C>A	XP_011530775.1:p.His634Asn
XM_011532474.1:c.1900C>A	XP_011530776.1:p.His634Asn
XM_006711916.3:c.1900C>A	XP_006711979.1:p.His634Asn
XM_017003117.1:c.1822C>A	XP_016858606.1:p.His608Asn
XR_002958896.1:n.1942C>A
NM_133259.4:c.1900C>A MANE Select	NP_573566.2:p.His634Asn