Canonical Allele Identifier: CA346676631

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1411272506
• gnomAD v4: 2-43899296-T-G
• MyVariant Identifiers: chr2:g.44126435T>G (hg19) ; chr2:g.43899296T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899296T>G , CM000664.2:g.43899296T>G	GRCh38
NC_000002.11:g.44126435T>G , CM000664.1:g.44126435T>G	GRCh37
NC_000002.10:g.43979939T>G	NCBI36
NG_008247.1:g.101710A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.179A>C
ENST00000472420.6:n.827A>C
ENST00000483489.2:n.179A>C
ENST00000681993.1:n.1300A>C
ENST00000682303.1:c.*3534A>C	ENSP00000508325.1:n.*3534A>C
ENST00000682308.1:c.3748A>C	ENSP00000507056.1:p.Ile1250Leu
ENST00000682434.1:n.1299A>C
ENST00000682480.1:c.3766A>C	ENSP00000508344.1:p.Ile1256Leu
ENST00000682546.1:c.3745A>C	ENSP00000508188.1:p.Ile1249Leu
ENST00000682585.1:c.3748A>C	ENSP00000506885.1:p.Ile1250Leu
ENST00000682595.1:n.4332A>C
ENST00000682607.1:c.2166A>C
ENST00000682612.1:c.600A>C
ENST00000682779.1:c.3739A>C	ENSP00000507947.1:p.Ile1247Leu
ENST00000682845.1:n.2850A>C
ENST00000682885.1:c.3703A>C	ENSP00000508036.1:p.Ile1235Leu
ENST00000682933.1:n.3822A>C
ENST00000683002.1:c.600A>C
ENST00000683072.1:n.4332A>C
ENST00000683080.1:n.1367A>C
ENST00000683125.1:c.3856A>C	ENSP00000507939.1:p.Ile1286Leu
ENST00000683213.1:c.3751A>C	ENSP00000507751.1:p.Ile1251Leu
ENST00000683220.1:c.3778A>C	ENSP00000507151.1:p.Ile1260Leu
ENST00000683329.1:n.4551A>C
ENST00000683346.1:c.*3623A>C	ENSP00000507458.1:n.*3623A>C
ENST00000683409.1:n.2355A>C
ENST00000683459.1:n.4335A>C
ENST00000683528.1:c.676A>C
ENST00000683590.1:c.3496A>C	ENSP00000506820.1:p.Ile1166Leu
ENST00000683623.1:c.3655A>C	ENSP00000507702.1:p.Ile1219Leu
ENST00000683645.1:n.4299A>C
ENST00000683796.1:c.*3620A>C	ENSP00000508221.1:n.*3620A>C
ENST00000683802.1:n.6673A>C
ENST00000683833.1:c.3739A>C	ENSP00000506852.1:p.Ile1247Leu
ENST00000683994.1:c.3748A>C	ENSP00000507181.1:p.Ile1250Leu
ENST00000684290.1:c.*1284A>C	ENSP00000507243.1:n.*1284A>C
ENST00000684306.1:c.*3661A>C	ENSP00000508384.1:n.*3661A>C
ENST00000684341.1:n.3768A>C
ENST00000684383.1:c.*3386A>C	ENSP00000506863.1:n.*3386A>C
ENST00000684418.1:n.4929A>C
ENST00000684433.1:n.132A>C
ENST00000684454.1:n.3098A>C
ENST00000684619.1:c.*3620A>C	ENSP00000508088.1:n.*3620A>C
ENST00000684743.1:n.6493A>C
ENST00000260665.12:c.3748A>C MANE Select	ENSP00000260665.7:p.Ile1250Leu
ENST00000260665.11:c.3748A>C	ENSP00000260665.7:p.Ile1250Leu
ENST00000463456.5:n.2791A>C
ENST00000472420.5:n.145A>C
ENST00000483489.1:n.222A>C
NM_133259.3:c.3748A>C	NP_573566.2:p.Ile1250Leu
XM_006711915.2:c.3670A>C	XP_006711978.1:p.Ile1224Leu
XM_011532473.1:c.3748A>C	XP_011530775.1:p.Ile1250Leu
XM_011532474.1:c.3748A>C	XP_011530776.1:p.Ile1250Leu
XM_017003117.1:c.3670A>C	XP_016858606.1:p.Ile1224Leu
XR_002958896.1:n.3790A>C
NM_133259.4:c.3748A>C MANE Select	NP_573566.2:p.Ile1250Leu