Canonical Allele Identifier: CA1029987700

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1253754514
• gnomAD v3: 2-43905812-C-T
• gnomAD v4: 2-43905812-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905812C>T , CM000664.2:g.43905812C>T	GRCh38
NC_000002.11:g.44132951C>T , CM000664.1:g.44132951C>T	GRCh37
NC_000002.10:g.43986455C>T	NCBI36
NG_008247.1:g.95194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.355-32G>A
ENST00000681993.1:n.828-32G>A
ENST00000682295.1:c.431-32G>A	ENSP00000507499.1:n.431-32G>A
ENST00000682303.1:c.*3062-32G>A	ENSP00000508325.1:n.*3062-32G>A
ENST00000682308.1:c.3276-32G>A	ENSP00000507056.1:n.3276-32G>A
ENST00000682480.1:c.3294-32G>A	ENSP00000508344.1:n.3294-32G>A
ENST00000682546.1:c.3273-32G>A	ENSP00000508188.1:n.3273-32G>A
ENST00000682585.1:c.3276-32G>A	ENSP00000506885.1:n.3276-32G>A
ENST00000682595.1:n.3860-32G>A
ENST00000682607.1:c.1694-32G>A
ENST00000682612.1:c.128-32G>A
ENST00000682779.1:c.3267-32G>A	ENSP00000507947.1:n.3267-32G>A
ENST00000682845.1:n.2378-32G>A
ENST00000682885.1:c.3231-32G>A	ENSP00000508036.1:n.3231-32G>A
ENST00000682933.1:n.3350-32G>A
ENST00000683002.1:c.128-32G>A
ENST00000683072.1:n.3860-32G>A
ENST00000683080.1:n.895-32G>A
ENST00000683125.1:c.3384-32G>A	ENSP00000507939.1:n.3384-32G>A
ENST00000683213.1:c.3279-32G>A	ENSP00000507751.1:n.3279-32G>A
ENST00000683220.1:c.3306-32G>A	ENSP00000507151.1:n.3306-32G>A
ENST00000683329.1:n.4079-32G>A
ENST00000683346.1:c.*3151-32G>A	ENSP00000507458.1:n.*3151-32G>A
ENST00000683409.1:n.1883-32G>A
ENST00000683459.1:n.3863-32G>A
ENST00000683528.1:c.128-32G>A
ENST00000683590.1:c.3024-32G>A	ENSP00000506820.1:n.3024-32G>A
ENST00000683623.1:c.3183-32G>A	ENSP00000507702.1:n.3183-32G>A
ENST00000683645.1:n.3827-32G>A
ENST00000683796.1:c.*3148-32G>A	ENSP00000508221.1:n.*3148-32G>A
ENST00000683802.1:n.6201-32G>A
ENST00000683833.1:c.3267-32G>A	ENSP00000506852.1:n.3267-32G>A
ENST00000683994.1:c.3276-32G>A	ENSP00000507181.1:n.3276-32G>A
ENST00000684290.1:c.*812-32G>A	ENSP00000507243.1:n.*812-32G>A
ENST00000684306.1:c.*3189-32G>A	ENSP00000508384.1:n.*3189-32G>A
ENST00000684341.1:n.3296-32G>A
ENST00000684383.1:c.*2914-32G>A	ENSP00000506863.1:n.*2914-32G>A
ENST00000684418.1:n.4457-32G>A
ENST00000684454.1:n.2626-32G>A
ENST00000684619.1:c.*3148-32G>A	ENSP00000508088.1:n.*3148-32G>A
ENST00000684743.1:n.4307-32G>A
ENST00000260665.12:c.3276-32G>A MANE Select	ENSP00000260665.7:n.3276-32G>A
ENST00000260665.11:c.3276-32G>A	ENSP00000260665.7:n.3276-32G>A
NM_133259.3:c.3276-32G>A	NP_573566.2:n.3276-32G>A
XM_006711915.2:c.3198-32G>A	XP_006711978.1:n.3198-32G>A
XM_011532473.1:c.3276-32G>A	XP_011530775.1:n.3276-32G>A
XM_011532474.1:c.3276-32G>A	XP_011530776.1:n.3276-32G>A
XM_017003117.1:c.3198-32G>A	XP_016858606.1:n.3198-32G>A
XR_002958896.1:n.3318-32G>A
NM_133259.4:c.3276-32G>A MANE Select	NP_573566.2:n.3276-32G>A