Canonical Allele Identifier: CA425910336
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44175273A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43948134A>C , CM000664.2:g.43948134A>C GRCh38
NC_000002.11:g.44175273A>C , CM000664.1:g.44175273A>C GRCh37
NC_000002.10:g.44028777A>C NCBI36
NG_008247.1:g.52872T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.1908T>G ENSP00000386562.2:p.Pro636=
ENST00000447246.2:c.1908T>G ENSP00000403637.2:p.Pro636=
ENST00000681959.1:n.1522T>G
ENST00000681961.1:n.1928T>G
ENST00000682104.1:c.1782T>G ENSP00000507716.1:p.Pro594=
ENST00000682303.1:c.*1780T>G ENSP00000508325.1:n.*1780T>G
ENST00000682308.1:c.1908T>G ENSP00000507056.1:p.Pro636=
ENST00000682480.1:c.1908T>G ENSP00000508344.1:p.Pro636=
ENST00000682546.1:c.1905T>G ENSP00000508188.1:p.Pro635=
ENST00000682585.1:c.1908T>G ENSP00000506885.1:p.Pro636=
ENST00000682595.1:n.2490T>G
ENST00000682607.1:c.326T>G
ENST00000682779.1:c.1899T>G ENSP00000507947.1:p.Pro633=
ENST00000682885.1:c.1908T>G ENSP00000508036.1:p.Pro636=
ENST00000682933.1:n.1982T>G
ENST00000683072.1:n.2490T>G
ENST00000683082.1:n.1926T>G
ENST00000683125.1:c.1908T>G ENSP00000507939.1:p.Pro636=
ENST00000683213.1:c.1911T>G ENSP00000507751.1:p.Pro637=
ENST00000683220.1:c.1938T>G ENSP00000507151.1:p.Pro646=
ENST00000683329.1:n.2711T>G
ENST00000683346.1:c.*1783T>G ENSP00000507458.1:n.*1783T>G
ENST00000683459.1:n.2495T>G
ENST00000683590.1:c.1908T>G ENSP00000506820.1:p.Pro636=
ENST00000683623.1:c.1908T>G ENSP00000507702.1:p.Pro636=
ENST00000683645.1:n.2459T>G
ENST00000683694.1:n.659T>G
ENST00000683796.1:c.*1780T>G ENSP00000508221.1:n.*1780T>G
ENST00000683802.1:n.4833T>G
ENST00000683833.1:c.1899T>G ENSP00000506852.1:p.Pro633=
ENST00000683934.1:c.1794T>G
ENST00000683989.1:c.1908T>G ENSP00000507510.1:p.Pro636=
ENST00000683994.1:c.1908T>G ENSP00000507181.1:p.Pro636=
ENST00000684290.1:c.1908T>G ENSP00000507243.1:p.Pro636=
ENST00000684306.1:c.*1821T>G ENSP00000508384.1:n.*1821T>G
ENST00000684341.1:n.1928T>G
ENST00000684383.1:c.*1546T>G ENSP00000506863.1:n.*1546T>G
ENST00000684482.1:c.4377T>G
ENST00000684619.1:c.*1780T>G ENSP00000508088.1:n.*1780T>G
ENST00000684743.1:n.2939T>G
ENST00000260665.12:c.1908T>G MANE Select ENSP00000260665.7:p.Pro636=
ENST00000260665.11:c.1908T>G ENSP00000260665.7:p.Pro636=
NM_133259.3:c.1908T>G NP_573566.2:p.Pro636=
XM_006711915.2:c.1830T>G XP_006711978.1:p.Pro610=
XM_006711916.2:c.1908T>G XP_006711979.1:p.Pro636=
XM_011532473.1:c.1908T>G XP_011530775.1:p.Pro636=
XM_011532474.1:c.1908T>G XP_011530776.1:p.Pro636=
XM_006711916.3:c.1908T>G XP_006711979.1:p.Pro636=
XM_017003117.1:c.1830T>G XP_016858606.1:p.Pro610=
XR_002958896.1:n.1950T>G
NM_133259.4:c.1908T>G MANE Select NP_573566.2:p.Pro636=