Canonical Allele Identifier: CA346672473

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170831C>A (hg19) ; chr2:g.43943692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943692C>A , CM000664.2:g.43943692C>A	GRCh38
NC_000002.11:g.44170831C>A , CM000664.1:g.44170831C>A	GRCh37
NC_000002.10:g.44024335C>A	NCBI36
NG_008247.1:g.57314G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2499G>T	ENSP00000386562.2:p.Leu833Phe
ENST00000447246.2:c.2499G>T	ENSP00000403637.2:p.Leu833Phe
ENST00000681961.1:n.2519G>T
ENST00000682104.1:c.2373G>T	ENSP00000507716.1:p.Leu791Phe
ENST00000682303.1:c.*2285G>T	ENSP00000508325.1:n.*2285G>T
ENST00000682308.1:c.2499G>T	ENSP00000507056.1:p.Leu833Phe
ENST00000682480.1:c.2499G>T	ENSP00000508344.1:p.Leu833Phe
ENST00000682546.1:c.2496G>T	ENSP00000508188.1:p.Leu832Phe
ENST00000682585.1:c.2499G>T	ENSP00000506885.1:p.Leu833Phe
ENST00000682595.1:n.3081G>T
ENST00000682607.1:c.917G>T
ENST00000682779.1:c.2490G>T	ENSP00000507947.1:p.Leu830Phe
ENST00000682845.1:n.1601G>T
ENST00000682885.1:c.2454G>T	ENSP00000508036.1:p.Leu818Phe
ENST00000682933.1:n.2573G>T
ENST00000683072.1:n.3081G>T
ENST00000683125.1:c.2499G>T	ENSP00000507939.1:p.Leu833Phe
ENST00000683213.1:c.2502G>T	ENSP00000507751.1:p.Leu834Phe
ENST00000683220.1:c.2529G>T	ENSP00000507151.1:p.Leu843Phe
ENST00000683329.1:n.3302G>T
ENST00000683346.1:c.*2374G>T	ENSP00000507458.1:n.*2374G>T
ENST00000683459.1:n.3086G>T
ENST00000683590.1:c.2499G>T	ENSP00000506820.1:p.Leu833Phe
ENST00000683623.1:c.2406G>T	ENSP00000507702.1:p.Leu802Phe
ENST00000683645.1:n.3050G>T
ENST00000683694.1:n.1250G>T
ENST00000683796.1:c.*2371G>T	ENSP00000508221.1:n.*2371G>T
ENST00000683802.1:n.5424G>T
ENST00000683833.1:c.2490G>T	ENSP00000506852.1:p.Leu830Phe
ENST00000683989.1:c.2499G>T	ENSP00000507510.1:p.Leu833Phe
ENST00000683994.1:c.2499G>T	ENSP00000507181.1:p.Leu833Phe
ENST00000684290.1:c.*193G>T	ENSP00000507243.1:n.*193G>T
ENST00000684306.1:c.*2412G>T	ENSP00000508384.1:n.*2412G>T
ENST00000684341.1:n.2519G>T
ENST00000684383.1:c.*2137G>T	ENSP00000506863.1:n.*2137G>T
ENST00000684397.1:c.203G>T
ENST00000684619.1:c.*2371G>T	ENSP00000508088.1:n.*2371G>T
ENST00000684743.1:n.3530G>T
ENST00000260665.12:c.2499G>T MANE Select	ENSP00000260665.7:p.Leu833Phe
ENST00000260665.11:c.2499G>T	ENSP00000260665.7:p.Leu833Phe
NM_133259.3:c.2499G>T	NP_573566.2:p.Leu833Phe
XM_006711915.2:c.2421G>T	XP_006711978.1:p.Leu807Phe
XM_006711916.2:c.2499G>T	XP_006711979.1:p.Leu833Phe
XM_011532473.1:c.2499G>T	XP_011530775.1:p.Leu833Phe
XM_011532474.1:c.2499G>T	XP_011530776.1:p.Leu833Phe
XM_006711916.3:c.2499G>T	XP_006711979.1:p.Leu833Phe
XM_017003117.1:c.2421G>T	XP_016858606.1:p.Leu807Phe
XR_002958896.1:n.2541G>T
NM_133259.4:c.2499G>T MANE Select	NP_573566.2:p.Leu833Phe