Canonical Allele Identifier: CA346672477

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170832A>C (hg19) ; chr2:g.43943693A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943693A>C , CM000664.2:g.43943693A>C	GRCh38
NC_000002.11:g.44170832A>C , CM000664.1:g.44170832A>C	GRCh37
NC_000002.10:g.44024336A>C	NCBI36
NG_008247.1:g.57313T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2498T>G	ENSP00000386562.2:p.Leu833Trp
ENST00000447246.2:c.2498T>G	ENSP00000403637.2:p.Leu833Trp
ENST00000681961.1:n.2518T>G
ENST00000682104.1:c.2372T>G	ENSP00000507716.1:p.Leu791Trp
ENST00000682303.1:c.*2284T>G	ENSP00000508325.1:n.*2284T>G
ENST00000682308.1:c.2498T>G	ENSP00000507056.1:p.Leu833Trp
ENST00000682480.1:c.2498T>G	ENSP00000508344.1:p.Leu833Trp
ENST00000682546.1:c.2495T>G	ENSP00000508188.1:p.Leu832Trp
ENST00000682585.1:c.2498T>G	ENSP00000506885.1:p.Leu833Trp
ENST00000682595.1:n.3080T>G
ENST00000682607.1:c.916T>G
ENST00000682779.1:c.2489T>G	ENSP00000507947.1:p.Leu830Trp
ENST00000682845.1:n.1600T>G
ENST00000682885.1:c.2453T>G	ENSP00000508036.1:p.Leu818Trp
ENST00000682933.1:n.2572T>G
ENST00000683072.1:n.3080T>G
ENST00000683125.1:c.2498T>G	ENSP00000507939.1:p.Leu833Trp
ENST00000683213.1:c.2501T>G	ENSP00000507751.1:p.Leu834Trp
ENST00000683220.1:c.2528T>G	ENSP00000507151.1:p.Leu843Trp
ENST00000683329.1:n.3301T>G
ENST00000683346.1:c.*2373T>G	ENSP00000507458.1:n.*2373T>G
ENST00000683459.1:n.3085T>G
ENST00000683590.1:c.2498T>G	ENSP00000506820.1:p.Leu833Trp
ENST00000683623.1:c.2405T>G	ENSP00000507702.1:p.Leu802Trp
ENST00000683645.1:n.3049T>G
ENST00000683694.1:n.1249T>G
ENST00000683796.1:c.*2370T>G	ENSP00000508221.1:n.*2370T>G
ENST00000683802.1:n.5423T>G
ENST00000683833.1:c.2489T>G	ENSP00000506852.1:p.Leu830Trp
ENST00000683989.1:c.2498T>G	ENSP00000507510.1:p.Leu833Trp
ENST00000683994.1:c.2498T>G	ENSP00000507181.1:p.Leu833Trp
ENST00000684290.1:c.*192T>G	ENSP00000507243.1:n.*192T>G
ENST00000684306.1:c.*2411T>G	ENSP00000508384.1:n.*2411T>G
ENST00000684341.1:n.2518T>G
ENST00000684383.1:c.*2136T>G	ENSP00000506863.1:n.*2136T>G
ENST00000684397.1:c.202T>G
ENST00000684619.1:c.*2370T>G	ENSP00000508088.1:n.*2370T>G
ENST00000684743.1:n.3529T>G
ENST00000260665.12:c.2498T>G MANE Select	ENSP00000260665.7:p.Leu833Trp
ENST00000260665.11:c.2498T>G	ENSP00000260665.7:p.Leu833Trp
NM_133259.3:c.2498T>G	NP_573566.2:p.Leu833Trp
XM_006711915.2:c.2420T>G	XP_006711978.1:p.Leu807Trp
XM_006711916.2:c.2498T>G	XP_006711979.1:p.Leu833Trp
XM_011532473.1:c.2498T>G	XP_011530775.1:p.Leu833Trp
XM_011532474.1:c.2498T>G	XP_011530776.1:p.Leu833Trp
XM_006711916.3:c.2498T>G	XP_006711979.1:p.Leu833Trp
XM_017003117.1:c.2420T>G	XP_016858606.1:p.Leu807Trp
XR_002958896.1:n.2540T>G
NM_133259.4:c.2498T>G MANE Select	NP_573566.2:p.Leu833Trp