Canonical Allele Identifier: CA1637969

Gene: LRPPRC

Linked Data

• dbSNP Id: rs757728062
• ExAC: 2:44126494 A / C
• gnomAD v2: 2-44126494-A-C
• gnomAD v3: 2-43899355-A-C
• gnomAD v4: 2-43899355-A-C
• MyVariant Identifiers: chr2:g.44126494A>C (hg19) ; chr2:g.43899355A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899355A>C , CM000664.2:g.43899355A>C	GRCh38
NC_000002.11:g.44126494A>C , CM000664.1:g.44126494A>C	GRCh37
NC_000002.10:g.43979998A>C	NCBI36
NG_008247.1:g.101651T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.141-21T>G
ENST00000472420.6:n.789-21T>G
ENST00000483489.2:n.141-21T>G
ENST00000681993.1:n.1262-21T>G
ENST00000682303.1:c.*3496-21T>G	ENSP00000508325.1:n.*3496-21T>G
ENST00000682308.1:c.3710-21T>G	ENSP00000507056.1:n.3710-21T>G
ENST00000682434.1:n.1261-21T>G
ENST00000682480.1:c.3728-21T>G	ENSP00000508344.1:n.3728-21T>G
ENST00000682546.1:c.3707-21T>G	ENSP00000508188.1:n.3707-21T>G
ENST00000682585.1:c.3710-21T>G	ENSP00000506885.1:n.3710-21T>G
ENST00000682595.1:n.4294-21T>G
ENST00000682607.1:c.2128-21T>G
ENST00000682612.1:c.562-21T>G
ENST00000682779.1:c.3701-21T>G	ENSP00000507947.1:n.3701-21T>G
ENST00000682845.1:n.2812-21T>G
ENST00000682885.1:c.3665-21T>G	ENSP00000508036.1:n.3665-21T>G
ENST00000682933.1:n.3784-21T>G
ENST00000683002.1:c.562-21T>G
ENST00000683072.1:n.4294-21T>G
ENST00000683080.1:n.1329-21T>G
ENST00000683125.1:c.3818-21T>G	ENSP00000507939.1:n.3818-21T>G
ENST00000683213.1:c.3713-21T>G	ENSP00000507751.1:n.3713-21T>G
ENST00000683220.1:c.3740-21T>G	ENSP00000507151.1:n.3740-21T>G
ENST00000683329.1:n.4513-21T>G
ENST00000683346.1:c.*3585-21T>G	ENSP00000507458.1:n.*3585-21T>G
ENST00000683409.1:n.2317-21T>G
ENST00000683459.1:n.4297-21T>G
ENST00000683528.1:c.638-21T>G
ENST00000683590.1:c.3458-21T>G	ENSP00000506820.1:n.3458-21T>G
ENST00000683623.1:c.3617-21T>G	ENSP00000507702.1:n.3617-21T>G
ENST00000683645.1:n.4261-21T>G
ENST00000683796.1:c.*3582-21T>G	ENSP00000508221.1:n.*3582-21T>G
ENST00000683802.1:n.6635-21T>G
ENST00000683833.1:c.3701-21T>G	ENSP00000506852.1:n.3701-21T>G
ENST00000683994.1:c.3710-21T>G	ENSP00000507181.1:n.3710-21T>G
ENST00000684290.1:c.*1246-21T>G	ENSP00000507243.1:n.*1246-21T>G
ENST00000684306.1:c.*3623-21T>G	ENSP00000508384.1:n.*3623-21T>G
ENST00000684341.1:n.3730-21T>G
ENST00000684383.1:c.*3348-21T>G	ENSP00000506863.1:n.*3348-21T>G
ENST00000684418.1:n.4891-21T>G
ENST00000684433.1:n.73T>G
ENST00000684454.1:n.3060-21T>G
ENST00000684619.1:c.*3582-21T>G	ENSP00000508088.1:n.*3582-21T>G
ENST00000684743.1:n.6455-21T>G
ENST00000260665.12:c.3710-21T>G MANE Select	ENSP00000260665.7:n.3710-21T>G
ENST00000260665.11:c.3710-21T>G	ENSP00000260665.7:n.3710-21T>G
ENST00000463456.5:n.2753-21T>G
ENST00000472420.5:n.107-21T>G
ENST00000483489.1:n.184-21T>G
NM_133259.3:c.3710-21T>G	NP_573566.2:n.3710-21T>G
XM_006711915.2:c.3632-21T>G	XP_006711978.1:n.3632-21T>G
XM_011532473.1:c.3710-21T>G	XP_011530775.1:n.3710-21T>G
XM_011532474.1:c.3710-21T>G	XP_011530776.1:n.3710-21T>G
XM_017003117.1:c.3632-21T>G	XP_016858606.1:n.3632-21T>G
XR_002958896.1:n.3752-21T>G
NM_133259.4:c.3710-21T>G MANE Select	NP_573566.2:n.3710-21T>G