Canonical Allele Identifier: CA346668518

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918317-A-C
• MyVariant Identifiers: chr2:g.44145456A>C (hg19) ; chr2:g.43918317A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918317A>C , CM000664.2:g.43918317A>C	GRCh38
NC_000002.11:g.44145456A>C , CM000664.1:g.44145456A>C	GRCh37
NC_000002.10:g.43998960A>C	NCBI36
NG_008247.1:g.82689T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.530T>G
ENST00000682295.1:c.242T>G	ENSP00000507499.1:p.Leu81Ter
ENST00000682303.1:c.*2764T>G	ENSP00000508325.1:n.*2764T>G
ENST00000682308.1:c.2978T>G	ENSP00000507056.1:p.Leu993Ter
ENST00000682480.1:c.2978T>G	ENSP00000508344.1:p.Leu993Ter
ENST00000682546.1:c.2975T>G	ENSP00000508188.1:p.Leu992Ter
ENST00000682585.1:c.2978T>G	ENSP00000506885.1:p.Leu993Ter
ENST00000682595.1:n.3562T>G
ENST00000682607.1:c.1396T>G
ENST00000682779.1:c.2969T>G	ENSP00000507947.1:p.Leu990Ter
ENST00000682845.1:n.2080T>G
ENST00000682885.1:c.2933T>G	ENSP00000508036.1:p.Leu978Ter
ENST00000682933.1:n.3052T>G
ENST00000683072.1:n.3562T>G
ENST00000683080.1:n.597T>G
ENST00000683125.1:c.3086T>G	ENSP00000507939.1:p.Leu1029Ter
ENST00000683213.1:c.2981T>G	ENSP00000507751.1:p.Leu994Ter
ENST00000683220.1:c.3008T>G	ENSP00000507151.1:p.Leu1003Ter
ENST00000683236.1:c.308T>G	ENSP00000506891.1:n.308T>G
ENST00000683329.1:n.3781T>G
ENST00000683346.1:c.*2853T>G	ENSP00000507458.1:n.*2853T>G
ENST00000683409.1:n.1585T>G
ENST00000683459.1:n.3565T>G
ENST00000683590.1:c.2897-5759T>G	ENSP00000506820.1:n.2897-5759T>G
ENST00000683623.1:c.2885T>G	ENSP00000507702.1:p.Leu962Ter
ENST00000683645.1:n.3529T>G
ENST00000683796.1:c.*2850T>G	ENSP00000508221.1:n.*2850T>G
ENST00000683802.1:n.5903T>G
ENST00000683833.1:c.2969T>G	ENSP00000506852.1:p.Leu990Ter
ENST00000683994.1:c.2978T>G	ENSP00000507181.1:p.Leu993Ter
ENST00000684290.1:c.*514T>G	ENSP00000507243.1:n.*514T>G
ENST00000684306.1:c.*2891T>G	ENSP00000508384.1:n.*2891T>G
ENST00000684341.1:n.2998T>G
ENST00000684383.1:c.*2616T>G	ENSP00000506863.1:n.*2616T>G
ENST00000684619.1:c.*2850T>G	ENSP00000508088.1:n.*2850T>G
ENST00000684705.1:n.99T>G
ENST00000684743.1:n.4009T>G
ENST00000260665.12:c.2978T>G MANE Select	ENSP00000260665.7:p.Leu993Ter
ENST00000260665.11:c.2978T>G	ENSP00000260665.7:p.Leu993Ter
NM_133259.3:c.2978T>G	NP_573566.2:p.Leu993Ter
XM_006711915.2:c.2900T>G	XP_006711978.1:p.Leu967Ter
XM_006711916.2:c.2978T>G	XP_006711979.1:p.Leu993Ter
XM_011532473.1:c.2978T>G	XP_011530775.1:p.Leu993Ter
XM_011532474.1:c.2978T>G	XP_011530776.1:p.Leu993Ter
XM_006711916.3:c.2978T>G	XP_006711979.1:p.Leu993Ter
XM_017003117.1:c.2900T>G	XP_016858606.1:p.Leu967Ter
XR_002958896.1:n.3020T>G
NM_133259.4:c.2978T>G MANE Select	NP_573566.2:p.Leu993Ter