Canonical Allele Identifier: CA346676625

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899295-A-G
• MyVariant Identifiers: chr2:g.44126434A>G (hg19) ; chr2:g.43899295A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899295A>G , CM000664.2:g.43899295A>G	GRCh38
NC_000002.11:g.44126434A>G , CM000664.1:g.44126434A>G	GRCh37
NC_000002.10:g.43979938A>G	NCBI36
NG_008247.1:g.101711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.180T>C
ENST00000472420.6:n.828T>C
ENST00000483489.2:n.180T>C
ENST00000681993.1:n.1301T>C
ENST00000682303.1:c.*3535T>C	ENSP00000508325.1:n.*3535T>C
ENST00000682308.1:c.3749T>C	ENSP00000507056.1:p.Ile1250Thr
ENST00000682434.1:n.1300T>C
ENST00000682480.1:c.3767T>C	ENSP00000508344.1:p.Ile1256Thr
ENST00000682546.1:c.3746T>C	ENSP00000508188.1:p.Ile1249Thr
ENST00000682585.1:c.3749T>C	ENSP00000506885.1:p.Ile1250Thr
ENST00000682595.1:n.4333T>C
ENST00000682607.1:c.2167T>C
ENST00000682612.1:c.601T>C
ENST00000682779.1:c.3740T>C	ENSP00000507947.1:p.Ile1247Thr
ENST00000682845.1:n.2851T>C
ENST00000682885.1:c.3704T>C	ENSP00000508036.1:p.Ile1235Thr
ENST00000682933.1:n.3823T>C
ENST00000683002.1:c.601T>C
ENST00000683072.1:n.4333T>C
ENST00000683080.1:n.1368T>C
ENST00000683125.1:c.3857T>C	ENSP00000507939.1:p.Ile1286Thr
ENST00000683213.1:c.3752T>C	ENSP00000507751.1:p.Ile1251Thr
ENST00000683220.1:c.3779T>C	ENSP00000507151.1:p.Ile1260Thr
ENST00000683329.1:n.4552T>C
ENST00000683346.1:c.*3624T>C	ENSP00000507458.1:n.*3624T>C
ENST00000683409.1:n.2356T>C
ENST00000683459.1:n.4336T>C
ENST00000683528.1:c.677T>C
ENST00000683590.1:c.3497T>C	ENSP00000506820.1:p.Ile1166Thr
ENST00000683623.1:c.3656T>C	ENSP00000507702.1:p.Ile1219Thr
ENST00000683645.1:n.4300T>C
ENST00000683796.1:c.*3621T>C	ENSP00000508221.1:n.*3621T>C
ENST00000683802.1:n.6674T>C
ENST00000683833.1:c.3740T>C	ENSP00000506852.1:p.Ile1247Thr
ENST00000683994.1:c.3749T>C	ENSP00000507181.1:p.Ile1250Thr
ENST00000684290.1:c.*1285T>C	ENSP00000507243.1:n.*1285T>C
ENST00000684306.1:c.*3662T>C	ENSP00000508384.1:n.*3662T>C
ENST00000684341.1:n.3769T>C
ENST00000684383.1:c.*3387T>C	ENSP00000506863.1:n.*3387T>C
ENST00000684418.1:n.4930T>C
ENST00000684433.1:n.133T>C
ENST00000684454.1:n.3099T>C
ENST00000684619.1:c.*3621T>C	ENSP00000508088.1:n.*3621T>C
ENST00000684743.1:n.6494T>C
ENST00000260665.12:c.3749T>C MANE Select	ENSP00000260665.7:p.Ile1250Thr
ENST00000260665.11:c.3749T>C	ENSP00000260665.7:p.Ile1250Thr
ENST00000463456.5:n.2792T>C
ENST00000472420.5:n.146T>C
ENST00000483489.1:n.223T>C
NM_133259.3:c.3749T>C	NP_573566.2:p.Ile1250Thr
XM_006711915.2:c.3671T>C	XP_006711978.1:p.Ile1224Thr
XM_011532473.1:c.3749T>C	XP_011530775.1:p.Ile1250Thr
XM_011532474.1:c.3749T>C	XP_011530776.1:p.Ile1250Thr
XM_017003117.1:c.3671T>C	XP_016858606.1:p.Ile1224Thr
XR_002958896.1:n.3791T>C
NM_133259.4:c.3749T>C MANE Select	NP_573566.2:p.Ile1250Thr