Canonical Allele Identifier: CA346668186

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145233A>C (hg19) ; chr2:g.43918094A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918094A>C , CM000664.2:g.43918094A>C	GRCh38
NC_000002.11:g.44145233A>C , CM000664.1:g.44145233A>C	GRCh37
NC_000002.10:g.43998737A>C	NCBI36
NG_008247.1:g.82912T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.631T>G
ENST00000682295.1:c.303+162T>G	ENSP00000507499.1:n.303+162T>G
ENST00000682303.1:c.*2865T>G	ENSP00000508325.1:n.*2865T>G
ENST00000682308.1:c.3079T>G	ENSP00000507056.1:p.Ser1027Ala
ENST00000682480.1:c.3097T>G	ENSP00000508344.1:p.Ser1033Ala
ENST00000682546.1:c.3076T>G	ENSP00000508188.1:p.Ser1026Ala
ENST00000682585.1:c.3079T>G	ENSP00000506885.1:p.Ser1027Ala
ENST00000682595.1:n.3663T>G
ENST00000682607.1:c.1497T>G
ENST00000682779.1:c.3070T>G	ENSP00000507947.1:p.Ser1024Ala
ENST00000682845.1:n.2181T>G
ENST00000682885.1:c.3034T>G	ENSP00000508036.1:p.Ser1012Ala
ENST00000682933.1:n.3153T>G
ENST00000683072.1:n.3663T>G
ENST00000683080.1:n.698T>G
ENST00000683125.1:c.3187T>G	ENSP00000507939.1:p.Ser1063Ala
ENST00000683213.1:c.3082T>G	ENSP00000507751.1:p.Ser1028Ala
ENST00000683220.1:c.3109T>G	ENSP00000507151.1:p.Ser1037Ala
ENST00000683329.1:n.3882T>G
ENST00000683346.1:c.*2954T>G	ENSP00000507458.1:n.*2954T>G
ENST00000683409.1:n.1686T>G
ENST00000683459.1:n.3666T>G
ENST00000683590.1:c.2897-5536T>G	ENSP00000506820.1:n.2897-5536T>G
ENST00000683623.1:c.2986T>G	ENSP00000507702.1:p.Ser996Ala
ENST00000683645.1:n.3630T>G
ENST00000683796.1:c.*2951T>G	ENSP00000508221.1:n.*2951T>G
ENST00000683802.1:n.6004T>G
ENST00000683833.1:c.3070T>G	ENSP00000506852.1:p.Ser1024Ala
ENST00000683994.1:c.3079T>G	ENSP00000507181.1:p.Ser1027Ala
ENST00000684290.1:c.*615T>G	ENSP00000507243.1:n.*615T>G
ENST00000684306.1:c.*2992T>G	ENSP00000508384.1:n.*2992T>G
ENST00000684341.1:n.3099T>G
ENST00000684383.1:c.*2717T>G	ENSP00000506863.1:n.*2717T>G
ENST00000684619.1:c.*2951T>G	ENSP00000508088.1:n.*2951T>G
ENST00000684705.1:n.200T>G
ENST00000684743.1:n.4110T>G
ENST00000260665.12:c.3079T>G MANE Select	ENSP00000260665.7:p.Ser1027Ala
ENST00000260665.11:c.3079T>G	ENSP00000260665.7:p.Ser1027Ala
NM_133259.3:c.3079T>G	NP_573566.2:p.Ser1027Ala
XM_006711915.2:c.3001T>G	XP_006711978.1:p.Ser1001Ala
XM_006711916.2:c.3079T>G	XP_006711979.1:p.Ser1027Ala
XM_011532473.1:c.3079T>G	XP_011530775.1:p.Ser1027Ala
XM_011532474.1:c.3079T>G	XP_011530776.1:p.Ser1027Ala
XM_006711916.3:c.3079T>G	XP_006711979.1:p.Ser1027Ala
XM_017003117.1:c.3001T>G	XP_016858606.1:p.Ser1001Ala
XR_002958896.1:n.3121T>G
NM_133259.4:c.3079T>G MANE Select	NP_573566.2:p.Ser1027Ala