Canonical Allele Identifier: CA425909704
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44170887G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43943748G>A , CM000664.2:g.43943748G>A GRCh38
NC_000002.11:g.44170887G>A , CM000664.1:g.44170887G>A GRCh37
NC_000002.10:g.44024391G>A NCBI36
NG_008247.1:g.57258C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.2443C>T ENSP00000386562.2:p.Leu815=
ENST00000447246.2:c.2443C>T ENSP00000403637.2:p.Leu815=
ENST00000681961.1:n.2463C>T
ENST00000682104.1:c.2317C>T ENSP00000507716.1:p.Leu773=
ENST00000682303.1:c.*2229C>T ENSP00000508325.1:n.*2229C>T
ENST00000682308.1:c.2443C>T ENSP00000507056.1:p.Leu815=
ENST00000682480.1:c.2443C>T ENSP00000508344.1:p.Leu815=
ENST00000682546.1:c.2440C>T ENSP00000508188.1:p.Leu814=
ENST00000682585.1:c.2443C>T ENSP00000506885.1:p.Leu815=
ENST00000682595.1:n.3025C>T
ENST00000682607.1:c.861C>T
ENST00000682779.1:c.2434C>T ENSP00000507947.1:p.Leu812=
ENST00000682845.1:n.1545C>T
ENST00000682885.1:c.2398C>T ENSP00000508036.1:p.Leu800=
ENST00000682933.1:n.2517C>T
ENST00000683072.1:n.3025C>T
ENST00000683125.1:c.2443C>T ENSP00000507939.1:p.Leu815=
ENST00000683213.1:c.2446C>T ENSP00000507751.1:p.Leu816=
ENST00000683220.1:c.2473C>T ENSP00000507151.1:p.Leu825=
ENST00000683329.1:n.3246C>T
ENST00000683346.1:c.*2318C>T ENSP00000507458.1:n.*2318C>T
ENST00000683459.1:n.3030C>T
ENST00000683590.1:c.2443C>T ENSP00000506820.1:p.Leu815=
ENST00000683623.1:c.2350C>T ENSP00000507702.1:p.Leu784=
ENST00000683645.1:n.2994C>T
ENST00000683694.1:n.1194C>T
ENST00000683796.1:c.*2315C>T ENSP00000508221.1:n.*2315C>T
ENST00000683802.1:n.5368C>T
ENST00000683833.1:c.2434C>T ENSP00000506852.1:p.Leu812=
ENST00000683989.1:c.2443C>T ENSP00000507510.1:p.Leu815=
ENST00000683994.1:c.2443C>T ENSP00000507181.1:p.Leu815=
ENST00000684290.1:c.*137C>T ENSP00000507243.1:n.*137C>T
ENST00000684306.1:c.*2356C>T ENSP00000508384.1:n.*2356C>T
ENST00000684341.1:n.2463C>T
ENST00000684383.1:c.*2081C>T ENSP00000506863.1:n.*2081C>T
ENST00000684397.1:c.147C>T
ENST00000684619.1:c.*2315C>T ENSP00000508088.1:n.*2315C>T
ENST00000684743.1:n.3474C>T
ENST00000260665.12:c.2443C>T MANE Select ENSP00000260665.7:p.Leu815=
ENST00000260665.11:c.2443C>T ENSP00000260665.7:p.Leu815=
NM_133259.3:c.2443C>T NP_573566.2:p.Leu815=
XM_006711915.2:c.2365C>T XP_006711978.1:p.Leu789=
XM_006711916.2:c.2443C>T XP_006711979.1:p.Leu815=
XM_011532473.1:c.2443C>T XP_011530775.1:p.Leu815=
XM_011532474.1:c.2443C>T XP_011530776.1:p.Leu815=
XM_006711916.3:c.2443C>T XP_006711979.1:p.Leu815=
XM_017003117.1:c.2365C>T XP_016858606.1:p.Leu789=
XR_002958896.1:n.2485C>T
NM_133259.4:c.2443C>T MANE Select NP_573566.2:p.Leu815=