Canonical Allele Identifier: CA346674736

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894556-A-G
• MyVariant Identifiers: chr2:g.44121695A>G (hg19) ; chr2:g.43894556A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894556A>G , CM000664.2:g.43894556A>G	GRCh38
NC_000002.11:g.44121695A>G , CM000664.1:g.44121695A>G	GRCh37
NC_000002.10:g.43975199A>G	NCBI36
NG_008247.1:g.106450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.604T>C
ENST00000681993.1:n.1526T>C
ENST00000682154.1:n.1408T>C
ENST00000682303.1:c.*3685T>C	ENSP00000508325.1:n.*3685T>C
ENST00000682308.1:c.3899T>C	ENSP00000507056.1:p.Met1300Thr
ENST00000682434.1:n.3529T>C
ENST00000682480.1:c.3992T>C	ENSP00000508344.1:p.Met1331Thr
ENST00000682546.1:c.3971T>C	ENSP00000508188.1:p.Met1324Thr
ENST00000682585.1:c.*102T>C	ENSP00000506885.1:n.*102T>C
ENST00000682607.1:c.2717T>C
ENST00000682612.1:c.752+2078T>C
ENST00000682696.1:c.74T>C	ENSP00000508411.1:p.Met25Thr
ENST00000682779.1:c.3965T>C	ENSP00000507947.1:p.Met1322Thr
ENST00000682885.1:c.3929T>C	ENSP00000508036.1:p.Met1310Thr
ENST00000682933.1:n.4174T>C
ENST00000683002.1:c.826T>C
ENST00000683072.1:n.4558T>C
ENST00000683080.1:n.1593T>C
ENST00000683096.1:n.2415T>C
ENST00000683125.1:c.4082T>C	ENSP00000507939.1:p.Met1361Thr
ENST00000683213.1:c.3977T>C	ENSP00000507751.1:p.Met1326Thr
ENST00000683220.1:c.4004T>C	ENSP00000507151.1:p.Met1335Thr
ENST00000683329.1:n.4777T>C
ENST00000683346.1:c.*3849T>C	ENSP00000507458.1:n.*3849T>C
ENST00000683409.1:n.2506T>C
ENST00000683459.1:n.4561T>C
ENST00000683590.1:c.3647T>C	ENSP00000506820.1:p.Met1216Thr
ENST00000683623.1:c.3881T>C	ENSP00000507702.1:p.Met1294Thr
ENST00000683796.1:c.*3771T>C	ENSP00000508221.1:n.*3771T>C
ENST00000683833.1:c.3890T>C	ENSP00000506852.1:p.Met1297Thr
ENST00000683994.1:c.*87T>C	ENSP00000507181.1:n.*87T>C
ENST00000684290.1:c.*1435T>C	ENSP00000507243.1:n.*1435T>C
ENST00000684306.1:c.*3887T>C	ENSP00000508384.1:n.*3887T>C
ENST00000684383.1:c.*3612T>C	ENSP00000506863.1:n.*3612T>C
ENST00000684418.1:n.5155T>C
ENST00000684433.1:n.358T>C
ENST00000684454.1:n.7838T>C
ENST00000684619.1:c.*3846T>C	ENSP00000508088.1:n.*3846T>C
ENST00000684743.1:n.6719T>C
ENST00000260665.12:c.3974T>C MANE Select	ENSP00000260665.7:p.Met1325Thr
ENST00000260665.11:c.3974T>C	ENSP00000260665.7:p.Met1325Thr
ENST00000419884.5:c.215T>C	ENSP00000414207.1:p.Met72Thr
ENST00000463456.5:n.3017T>C
NM_133259.3:c.3974T>C	NP_573566.2:p.Met1325Thr
XM_006711915.2:c.3896T>C	XP_006711978.1:p.Met1299Thr
XM_011532473.1:c.3899T>C	XP_011530775.1:p.Met1300Thr
XM_011532474.1:c.3974T>C	XP_011530776.1:p.Met1325Thr
XM_017003117.1:c.3821T>C	XP_016858606.1:p.Met1274Thr
XR_002958896.1:n.4016T>C
NM_133259.4:c.3974T>C MANE Select	NP_573566.2:p.Met1325Thr