Canonical Allele Identifier: CA346668547

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145472G>C (hg19) ; chr2:g.43918333G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918333G>C , CM000664.2:g.43918333G>C	GRCh38
NC_000002.11:g.44145472G>C , CM000664.1:g.44145472G>C	GRCh37
NC_000002.10:g.43998976G>C	NCBI36
NG_008247.1:g.82673C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.514C>G
ENST00000682295.1:c.226C>G	ENSP00000507499.1:p.Pro76Ala
ENST00000682303.1:c.*2748C>G	ENSP00000508325.1:n.*2748C>G
ENST00000682308.1:c.2962C>G	ENSP00000507056.1:p.Pro988Ala
ENST00000682480.1:c.2962C>G	ENSP00000508344.1:p.Pro988Ala
ENST00000682546.1:c.2959C>G	ENSP00000508188.1:p.Pro987Ala
ENST00000682585.1:c.2962C>G	ENSP00000506885.1:p.Pro988Ala
ENST00000682595.1:n.3546C>G
ENST00000682607.1:c.1380C>G
ENST00000682779.1:c.2953C>G	ENSP00000507947.1:p.Pro985Ala
ENST00000682845.1:n.2064C>G
ENST00000682885.1:c.2917C>G	ENSP00000508036.1:p.Pro973Ala
ENST00000682933.1:n.3036C>G
ENST00000683072.1:n.3546C>G
ENST00000683080.1:n.581C>G
ENST00000683125.1:c.3070C>G	ENSP00000507939.1:p.Pro1024Ala
ENST00000683213.1:c.2965C>G	ENSP00000507751.1:p.Pro989Ala
ENST00000683220.1:c.2992C>G	ENSP00000507151.1:p.Pro998Ala
ENST00000683236.1:c.292C>G	ENSP00000506891.1:n.292C>G
ENST00000683329.1:n.3765C>G
ENST00000683346.1:c.*2837C>G	ENSP00000507458.1:n.*2837C>G
ENST00000683409.1:n.1569C>G
ENST00000683459.1:n.3549C>G
ENST00000683590.1:c.2897-5775C>G	ENSP00000506820.1:n.2897-5775C>G
ENST00000683623.1:c.2869C>G	ENSP00000507702.1:p.Pro957Ala
ENST00000683645.1:n.3513C>G
ENST00000683796.1:c.*2834C>G	ENSP00000508221.1:n.*2834C>G
ENST00000683802.1:n.5887C>G
ENST00000683833.1:c.2953C>G	ENSP00000506852.1:p.Pro985Ala
ENST00000683994.1:c.2962C>G	ENSP00000507181.1:p.Pro988Ala
ENST00000684290.1:c.*498C>G	ENSP00000507243.1:n.*498C>G
ENST00000684306.1:c.*2875C>G	ENSP00000508384.1:n.*2875C>G
ENST00000684341.1:n.2982C>G
ENST00000684383.1:c.*2600C>G	ENSP00000506863.1:n.*2600C>G
ENST00000684619.1:c.*2834C>G	ENSP00000508088.1:n.*2834C>G
ENST00000684705.1:n.83C>G
ENST00000684743.1:n.3993C>G
ENST00000260665.12:c.2962C>G MANE Select	ENSP00000260665.7:p.Pro988Ala
ENST00000260665.11:c.2962C>G	ENSP00000260665.7:p.Pro988Ala
NM_133259.3:c.2962C>G	NP_573566.2:p.Pro988Ala
XM_006711915.2:c.2884C>G	XP_006711978.1:p.Pro962Ala
XM_006711916.2:c.2962C>G	XP_006711979.1:p.Pro988Ala
XM_011532473.1:c.2962C>G	XP_011530775.1:p.Pro988Ala
XM_011532474.1:c.2962C>G	XP_011530776.1:p.Pro988Ala
XM_006711916.3:c.2962C>G	XP_006711979.1:p.Pro988Ala
XM_017003117.1:c.2884C>G	XP_016858606.1:p.Pro962Ala
XR_002958896.1:n.3004C>G
NM_133259.4:c.2962C>G MANE Select	NP_573566.2:p.Pro988Ala