Canonical Allele Identifier: CA346668545

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145471G>A (hg19) ; chr2:g.43918332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918332G>A , CM000664.2:g.43918332G>A	GRCh38
NC_000002.11:g.44145471G>A , CM000664.1:g.44145471G>A	GRCh37
NC_000002.10:g.43998975G>A	NCBI36
NG_008247.1:g.82674C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681993.1:n.515C>T
ENST00000682295.1:c.227C>T	ENSP00000507499.1:p.Pro76Leu
ENST00000682303.1:c.*2749C>T	ENSP00000508325.1:n.*2749C>T
ENST00000682308.1:c.2963C>T	ENSP00000507056.1:p.Pro988Leu
ENST00000682480.1:c.2963C>T	ENSP00000508344.1:p.Pro988Leu
ENST00000682546.1:c.2960C>T	ENSP00000508188.1:p.Pro987Leu
ENST00000682585.1:c.2963C>T	ENSP00000506885.1:p.Pro988Leu
ENST00000682595.1:n.3547C>T
ENST00000682607.1:c.1381C>T
ENST00000682779.1:c.2954C>T	ENSP00000507947.1:p.Pro985Leu
ENST00000682845.1:n.2065C>T
ENST00000682885.1:c.2918C>T	ENSP00000508036.1:p.Pro973Leu
ENST00000682933.1:n.3037C>T
ENST00000683072.1:n.3547C>T
ENST00000683080.1:n.582C>T
ENST00000683125.1:c.3071C>T	ENSP00000507939.1:p.Pro1024Leu
ENST00000683213.1:c.2966C>T	ENSP00000507751.1:p.Pro989Leu
ENST00000683220.1:c.2993C>T	ENSP00000507151.1:p.Pro998Leu
ENST00000683236.1:c.293C>T	ENSP00000506891.1:n.293C>T
ENST00000683329.1:n.3766C>T
ENST00000683346.1:c.*2838C>T	ENSP00000507458.1:n.*2838C>T
ENST00000683409.1:n.1570C>T
ENST00000683459.1:n.3550C>T
ENST00000683590.1:c.2897-5774C>T	ENSP00000506820.1:n.2897-5774C>T
ENST00000683623.1:c.2870C>T	ENSP00000507702.1:p.Pro957Leu
ENST00000683645.1:n.3514C>T
ENST00000683796.1:c.*2835C>T	ENSP00000508221.1:n.*2835C>T
ENST00000683802.1:n.5888C>T
ENST00000683833.1:c.2954C>T	ENSP00000506852.1:p.Pro985Leu
ENST00000683994.1:c.2963C>T	ENSP00000507181.1:p.Pro988Leu
ENST00000684290.1:c.*499C>T	ENSP00000507243.1:n.*499C>T
ENST00000684306.1:c.*2876C>T	ENSP00000508384.1:n.*2876C>T
ENST00000684341.1:n.2983C>T
ENST00000684383.1:c.*2601C>T	ENSP00000506863.1:n.*2601C>T
ENST00000684619.1:c.*2835C>T	ENSP00000508088.1:n.*2835C>T
ENST00000684705.1:n.84C>T
ENST00000684743.1:n.3994C>T
ENST00000260665.12:c.2963C>T MANE Select	ENSP00000260665.7:p.Pro988Leu
ENST00000260665.11:c.2963C>T	ENSP00000260665.7:p.Pro988Leu
NM_133259.3:c.2963C>T	NP_573566.2:p.Pro988Leu
XM_006711915.2:c.2885C>T	XP_006711978.1:p.Pro962Leu
XM_006711916.2:c.2963C>T	XP_006711979.1:p.Pro988Leu
XM_011532473.1:c.2963C>T	XP_011530775.1:p.Pro988Leu
XM_011532474.1:c.2963C>T	XP_011530776.1:p.Pro988Leu
XM_006711916.3:c.2963C>T	XP_006711979.1:p.Pro988Leu
XM_017003117.1:c.2885C>T	XP_016858606.1:p.Pro962Leu
XR_002958896.1:n.3005C>T
NM_133259.4:c.2963C>T MANE Select	NP_573566.2:p.Pro988Leu