Canonical Allele Identifier: CA346672588

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170872G>A (hg19) ; chr2:g.43943733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943733G>A , CM000664.2:g.43943733G>A	GRCh38
NC_000002.11:g.44170872G>A , CM000664.1:g.44170872G>A	GRCh37
NC_000002.10:g.44024376G>A	NCBI36
NG_008247.1:g.57273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2458C>T	ENSP00000386562.2:p.Pro820Ser
ENST00000447246.2:c.2458C>T	ENSP00000403637.2:p.Pro820Ser
ENST00000681961.1:n.2478C>T
ENST00000682104.1:c.2332C>T	ENSP00000507716.1:p.Pro778Ser
ENST00000682303.1:c.*2244C>T	ENSP00000508325.1:n.*2244C>T
ENST00000682308.1:c.2458C>T	ENSP00000507056.1:p.Pro820Ser
ENST00000682480.1:c.2458C>T	ENSP00000508344.1:p.Pro820Ser
ENST00000682546.1:c.2455C>T	ENSP00000508188.1:p.Pro819Ser
ENST00000682585.1:c.2458C>T	ENSP00000506885.1:p.Pro820Ser
ENST00000682595.1:n.3040C>T
ENST00000682607.1:c.876C>T
ENST00000682779.1:c.2449C>T	ENSP00000507947.1:p.Pro817Ser
ENST00000682845.1:n.1560C>T
ENST00000682885.1:c.2413C>T	ENSP00000508036.1:p.Pro805Ser
ENST00000682933.1:n.2532C>T
ENST00000683072.1:n.3040C>T
ENST00000683125.1:c.2458C>T	ENSP00000507939.1:p.Pro820Ser
ENST00000683213.1:c.2461C>T	ENSP00000507751.1:p.Pro821Ser
ENST00000683220.1:c.2488C>T	ENSP00000507151.1:p.Pro830Ser
ENST00000683329.1:n.3261C>T
ENST00000683346.1:c.*2333C>T	ENSP00000507458.1:n.*2333C>T
ENST00000683459.1:n.3045C>T
ENST00000683590.1:c.2458C>T	ENSP00000506820.1:p.Pro820Ser
ENST00000683623.1:c.2365C>T	ENSP00000507702.1:p.Pro789Ser
ENST00000683645.1:n.3009C>T
ENST00000683694.1:n.1209C>T
ENST00000683796.1:c.*2330C>T	ENSP00000508221.1:n.*2330C>T
ENST00000683802.1:n.5383C>T
ENST00000683833.1:c.2449C>T	ENSP00000506852.1:p.Pro817Ser
ENST00000683989.1:c.2458C>T	ENSP00000507510.1:p.Pro820Ser
ENST00000683994.1:c.2458C>T	ENSP00000507181.1:p.Pro820Ser
ENST00000684290.1:c.*152C>T	ENSP00000507243.1:n.*152C>T
ENST00000684306.1:c.*2371C>T	ENSP00000508384.1:n.*2371C>T
ENST00000684341.1:n.2478C>T
ENST00000684383.1:c.*2096C>T	ENSP00000506863.1:n.*2096C>T
ENST00000684397.1:c.162C>T
ENST00000684619.1:c.*2330C>T	ENSP00000508088.1:n.*2330C>T
ENST00000684743.1:n.3489C>T
ENST00000260665.12:c.2458C>T MANE Select	ENSP00000260665.7:p.Pro820Ser
ENST00000260665.11:c.2458C>T	ENSP00000260665.7:p.Pro820Ser
NM_133259.3:c.2458C>T	NP_573566.2:p.Pro820Ser
XM_006711915.2:c.2380C>T	XP_006711978.1:p.Pro794Ser
XM_006711916.2:c.2458C>T	XP_006711979.1:p.Pro820Ser
XM_011532473.1:c.2458C>T	XP_011530775.1:p.Pro820Ser
XM_011532474.1:c.2458C>T	XP_011530776.1:p.Pro820Ser
XM_006711916.3:c.2458C>T	XP_006711979.1:p.Pro820Ser
XM_017003117.1:c.2380C>T	XP_016858606.1:p.Pro794Ser
XR_002958896.1:n.2500C>T
NM_133259.4:c.2458C>T MANE Select	NP_573566.2:p.Pro820Ser