Canonical Allele Identifier: CA346667972

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145190A>C (hg19) ; chr2:g.43918051A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918051A>C , CM000664.2:g.43918051A>C	GRCh38
NC_000002.11:g.44145190A>C , CM000664.1:g.44145190A>C	GRCh37
NC_000002.10:g.43998694A>C	NCBI36
NG_008247.1:g.82955T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.674T>G
ENST00000682295.1:c.303+205T>G	ENSP00000507499.1:n.303+205T>G
ENST00000682303.1:c.*2908T>G	ENSP00000508325.1:n.*2908T>G
ENST00000682308.1:c.3122T>G	ENSP00000507056.1:p.Ile1041Ser
ENST00000682480.1:c.3140T>G	ENSP00000508344.1:p.Ile1047Ser
ENST00000682546.1:c.3119T>G	ENSP00000508188.1:p.Ile1040Ser
ENST00000682585.1:c.3122T>G	ENSP00000506885.1:p.Ile1041Ser
ENST00000682595.1:n.3706T>G
ENST00000682607.1:c.1540T>G
ENST00000682779.1:c.3113T>G	ENSP00000507947.1:p.Ile1038Ser
ENST00000682845.1:n.2224T>G
ENST00000682885.1:c.3077T>G	ENSP00000508036.1:p.Ile1026Ser
ENST00000682933.1:n.3196T>G
ENST00000683072.1:n.3706T>G
ENST00000683080.1:n.741T>G
ENST00000683125.1:c.3230T>G	ENSP00000507939.1:p.Ile1077Ser
ENST00000683213.1:c.3125T>G	ENSP00000507751.1:p.Ile1042Ser
ENST00000683220.1:c.3152T>G	ENSP00000507151.1:p.Ile1051Ser
ENST00000683329.1:n.3925T>G
ENST00000683346.1:c.*2997T>G	ENSP00000507458.1:n.*2997T>G
ENST00000683409.1:n.1729T>G
ENST00000683459.1:n.3709T>G
ENST00000683590.1:c.2897-5493T>G	ENSP00000506820.1:n.2897-5493T>G
ENST00000683623.1:c.3029T>G	ENSP00000507702.1:p.Ile1010Ser
ENST00000683645.1:n.3673T>G
ENST00000683796.1:c.*2994T>G	ENSP00000508221.1:n.*2994T>G
ENST00000683802.1:n.6047T>G
ENST00000683833.1:c.3113T>G	ENSP00000506852.1:p.Ile1038Ser
ENST00000683994.1:c.3122T>G	ENSP00000507181.1:p.Ile1041Ser
ENST00000684290.1:c.*658T>G	ENSP00000507243.1:n.*658T>G
ENST00000684306.1:c.*3035T>G	ENSP00000508384.1:n.*3035T>G
ENST00000684341.1:n.3142T>G
ENST00000684383.1:c.*2760T>G	ENSP00000506863.1:n.*2760T>G
ENST00000684619.1:c.*2994T>G	ENSP00000508088.1:n.*2994T>G
ENST00000684705.1:n.243T>G
ENST00000684743.1:n.4153T>G
ENST00000260665.12:c.3122T>G MANE Select	ENSP00000260665.7:p.Ile1041Ser
ENST00000260665.11:c.3122T>G	ENSP00000260665.7:p.Ile1041Ser
NM_133259.3:c.3122T>G	NP_573566.2:p.Ile1041Ser
XM_006711915.2:c.3044T>G	XP_006711978.1:p.Ile1015Ser
XM_006711916.2:c.3122T>G	XP_006711979.1:p.Ile1041Ser
XM_011532473.1:c.3122T>G	XP_011530775.1:p.Ile1041Ser
XM_011532474.1:c.3122T>G	XP_011530776.1:p.Ile1041Ser
XM_006711916.3:c.3122T>G	XP_006711979.1:p.Ile1041Ser
XM_017003117.1:c.3044T>G	XP_016858606.1:p.Ile1015Ser
XR_002958896.1:n.3164T>G
NM_133259.4:c.3122T>G MANE Select	NP_573566.2:p.Ile1041Ser