Canonical Allele Identifier: CA346672949

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43943804-G-A
• MyVariant Identifiers: chr2:g.44170943G>A (hg19) ; chr2:g.43943804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943804G>A , CM000664.2:g.43943804G>A	GRCh38
NC_000002.11:g.44170943G>A , CM000664.1:g.44170943G>A	GRCh37
NC_000002.10:g.44024447G>A	NCBI36
NG_008247.1:g.57202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2387C>T	ENSP00000386562.2:p.Ala796Val
ENST00000447246.2:c.2387C>T	ENSP00000403637.2:p.Ala796Val
ENST00000681961.1:n.2407C>T
ENST00000682104.1:c.2261C>T	ENSP00000507716.1:p.Ala754Val
ENST00000682303.1:c.*2173C>T	ENSP00000508325.1:n.*2173C>T
ENST00000682308.1:c.2387C>T	ENSP00000507056.1:p.Ala796Val
ENST00000682480.1:c.2387C>T	ENSP00000508344.1:p.Ala796Val
ENST00000682546.1:c.2384C>T	ENSP00000508188.1:p.Ala795Val
ENST00000682585.1:c.2387C>T	ENSP00000506885.1:p.Ala796Val
ENST00000682595.1:n.2969C>T
ENST00000682607.1:c.805C>T
ENST00000682779.1:c.2378C>T	ENSP00000507947.1:p.Ala793Val
ENST00000682845.1:n.1489C>T
ENST00000682885.1:c.2342C>T	ENSP00000508036.1:p.Ala781Val
ENST00000682933.1:n.2461C>T
ENST00000683072.1:n.2969C>T
ENST00000683125.1:c.2387C>T	ENSP00000507939.1:p.Ala796Val
ENST00000683213.1:c.2390C>T	ENSP00000507751.1:p.Ala797Val
ENST00000683220.1:c.2417C>T	ENSP00000507151.1:p.Ala806Val
ENST00000683329.1:n.3190C>T
ENST00000683346.1:c.*2262C>T	ENSP00000507458.1:n.*2262C>T
ENST00000683459.1:n.2974C>T
ENST00000683590.1:c.2387C>T	ENSP00000506820.1:p.Ala796Val
ENST00000683623.1:c.2297-3C>T	ENSP00000507702.1:n.2297-3C>T
ENST00000683645.1:n.2938C>T
ENST00000683694.1:n.1138C>T
ENST00000683796.1:c.*2259C>T	ENSP00000508221.1:n.*2259C>T
ENST00000683802.1:n.5312C>T
ENST00000683833.1:c.2378C>T	ENSP00000506852.1:p.Ala793Val
ENST00000683989.1:c.2387C>T	ENSP00000507510.1:p.Ala796Val
ENST00000683994.1:c.2387C>T	ENSP00000507181.1:p.Ala796Val
ENST00000684290.1:c.*81C>T	ENSP00000507243.1:n.*81C>T
ENST00000684306.1:c.*2300C>T	ENSP00000508384.1:n.*2300C>T
ENST00000684341.1:n.2407C>T
ENST00000684383.1:c.*2025C>T	ENSP00000506863.1:n.*2025C>T
ENST00000684397.1:c.91C>T
ENST00000684619.1:c.*2259C>T	ENSP00000508088.1:n.*2259C>T
ENST00000684743.1:n.3418C>T
ENST00000260665.12:c.2387C>T MANE Select	ENSP00000260665.7:p.Ala796Val
ENST00000260665.11:c.2387C>T	ENSP00000260665.7:p.Ala796Val
NM_133259.3:c.2387C>T	NP_573566.2:p.Ala796Val
XM_006711915.2:c.2309C>T	XP_006711978.1:p.Ala770Val
XM_006711916.2:c.2387C>T	XP_006711979.1:p.Ala796Val
XM_011532473.1:c.2387C>T	XP_011530775.1:p.Ala796Val
XM_011532474.1:c.2387C>T	XP_011530776.1:p.Ala796Val
XM_006711916.3:c.2387C>T	XP_006711979.1:p.Ala796Val
XM_017003117.1:c.2309C>T	XP_016858606.1:p.Ala770Val
XR_002958896.1:n.2429C>T
NM_133259.4:c.2387C>T MANE Select	NP_573566.2:p.Ala796Val