Canonical Allele Identifier: CA346676122

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43948168-C-T
• MyVariant Identifiers: chr2:g.44175307C>T (hg19) ; chr2:g.43948168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948168C>T , CM000664.2:g.43948168C>T	GRCh38
NC_000002.11:g.44175307C>T , CM000664.1:g.44175307C>T	GRCh37
NC_000002.10:g.44028811C>T	NCBI36
NG_008247.1:g.52838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1874G>A	ENSP00000386562.2:p.Gly625Asp
ENST00000447246.2:c.1874G>A	ENSP00000403637.2:p.Gly625Asp
ENST00000467058.2:n.603G>A
ENST00000681959.1:n.1488G>A
ENST00000681961.1:n.1894G>A
ENST00000682104.1:c.1748G>A	ENSP00000507716.1:p.Gly583Asp
ENST00000682303.1:c.*1746G>A	ENSP00000508325.1:n.*1746G>A
ENST00000682308.1:c.1874G>A	ENSP00000507056.1:p.Gly625Asp
ENST00000682480.1:c.1874G>A	ENSP00000508344.1:p.Gly625Asp
ENST00000682546.1:c.1871G>A	ENSP00000508188.1:p.Gly624Asp
ENST00000682585.1:c.1874G>A	ENSP00000506885.1:p.Gly625Asp
ENST00000682595.1:n.2456G>A
ENST00000682607.1:c.292G>A
ENST00000682779.1:c.1865G>A	ENSP00000507947.1:p.Gly622Asp
ENST00000682885.1:c.1874G>A	ENSP00000508036.1:p.Gly625Asp
ENST00000682933.1:n.1948G>A
ENST00000683072.1:n.2456G>A
ENST00000683082.1:n.1892G>A
ENST00000683125.1:c.1874G>A	ENSP00000507939.1:p.Gly625Asp
ENST00000683213.1:c.1877G>A	ENSP00000507751.1:p.Gly626Asp
ENST00000683220.1:c.1904G>A	ENSP00000507151.1:p.Gly635Asp
ENST00000683329.1:n.2677G>A
ENST00000683346.1:c.*1749G>A	ENSP00000507458.1:n.*1749G>A
ENST00000683459.1:n.2461G>A
ENST00000683590.1:c.1874G>A	ENSP00000506820.1:p.Gly625Asp
ENST00000683623.1:c.1874G>A	ENSP00000507702.1:p.Gly625Asp
ENST00000683645.1:n.2425G>A
ENST00000683694.1:n.625G>A
ENST00000683796.1:c.*1746G>A	ENSP00000508221.1:n.*1746G>A
ENST00000683802.1:n.4799G>A
ENST00000683833.1:c.1865G>A	ENSP00000506852.1:p.Gly622Asp
ENST00000683934.1:c.1760G>A
ENST00000683989.1:c.1874G>A	ENSP00000507510.1:p.Gly625Asp
ENST00000683994.1:c.1874G>A	ENSP00000507181.1:p.Gly625Asp
ENST00000684290.1:c.1874G>A	ENSP00000507243.1:p.Gly625Asp
ENST00000684306.1:c.*1787G>A	ENSP00000508384.1:n.*1787G>A
ENST00000684341.1:n.1894G>A
ENST00000684383.1:c.*1512G>A	ENSP00000506863.1:n.*1512G>A
ENST00000684482.1:c.4343G>A
ENST00000684619.1:c.*1746G>A	ENSP00000508088.1:n.*1746G>A
ENST00000684743.1:n.2905G>A
ENST00000260665.12:c.1874G>A MANE Select	ENSP00000260665.7:p.Gly625Asp
ENST00000260665.11:c.1874G>A	ENSP00000260665.7:p.Gly625Asp
NM_133259.3:c.1874G>A	NP_573566.2:p.Gly625Asp
XM_006711915.2:c.1796G>A	XP_006711978.1:p.Gly599Asp
XM_006711916.2:c.1874G>A	XP_006711979.1:p.Gly625Asp
XM_011532473.1:c.1874G>A	XP_011530775.1:p.Gly625Asp
XM_011532474.1:c.1874G>A	XP_011530776.1:p.Gly625Asp
XM_006711916.3:c.1874G>A	XP_006711979.1:p.Gly625Asp
XM_017003117.1:c.1796G>A	XP_016858606.1:p.Gly599Asp
XR_002958896.1:n.1916G>A
NM_133259.4:c.1874G>A MANE Select	NP_573566.2:p.Gly625Asp