Canonical Allele Identifier: CA532276383

Gene: LRPPRC

Linked Data

• dbSNP Id: rs779618073
• gnomAD v2: 2-44132969-G-C
• gnomAD v4: 2-43905830-G-C
• MyVariant Identifiers: chr2:g.44132969G>C (hg19) ; chr2:g.43905830G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905830G>C , CM000664.2:g.43905830G>C	GRCh38
NC_000002.11:g.44132969G>C , CM000664.1:g.44132969G>C	GRCh37
NC_000002.10:g.43986473G>C	NCBI36
NG_008247.1:g.95176C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.355-50C>G
ENST00000681993.1:n.828-50C>G
ENST00000682295.1:c.431-50C>G	ENSP00000507499.1:n.431-50C>G
ENST00000682303.1:c.*3062-50C>G	ENSP00000508325.1:n.*3062-50C>G
ENST00000682308.1:c.3276-50C>G	ENSP00000507056.1:n.3276-50C>G
ENST00000682480.1:c.3294-50C>G	ENSP00000508344.1:n.3294-50C>G
ENST00000682546.1:c.3273-50C>G	ENSP00000508188.1:n.3273-50C>G
ENST00000682585.1:c.3276-50C>G	ENSP00000506885.1:n.3276-50C>G
ENST00000682595.1:n.3860-50C>G
ENST00000682607.1:c.1694-50C>G
ENST00000682612.1:c.128-50C>G
ENST00000682779.1:c.3267-50C>G	ENSP00000507947.1:n.3267-50C>G
ENST00000682845.1:n.2378-50C>G
ENST00000682885.1:c.3231-50C>G	ENSP00000508036.1:n.3231-50C>G
ENST00000682933.1:n.3350-50C>G
ENST00000683002.1:c.128-50C>G
ENST00000683072.1:n.3860-50C>G
ENST00000683080.1:n.895-50C>G
ENST00000683125.1:c.3384-50C>G	ENSP00000507939.1:n.3384-50C>G
ENST00000683213.1:c.3279-50C>G	ENSP00000507751.1:n.3279-50C>G
ENST00000683220.1:c.3306-50C>G	ENSP00000507151.1:n.3306-50C>G
ENST00000683329.1:n.4079-50C>G
ENST00000683346.1:c.*3151-50C>G	ENSP00000507458.1:n.*3151-50C>G
ENST00000683409.1:n.1883-50C>G
ENST00000683459.1:n.3863-50C>G
ENST00000683528.1:c.128-50C>G
ENST00000683590.1:c.3024-50C>G	ENSP00000506820.1:n.3024-50C>G
ENST00000683623.1:c.3183-50C>G	ENSP00000507702.1:n.3183-50C>G
ENST00000683645.1:n.3827-50C>G
ENST00000683796.1:c.*3148-50C>G	ENSP00000508221.1:n.*3148-50C>G
ENST00000683802.1:n.6201-50C>G
ENST00000683833.1:c.3267-50C>G	ENSP00000506852.1:n.3267-50C>G
ENST00000683994.1:c.3276-50C>G	ENSP00000507181.1:n.3276-50C>G
ENST00000684290.1:c.*812-50C>G	ENSP00000507243.1:n.*812-50C>G
ENST00000684306.1:c.*3189-50C>G	ENSP00000508384.1:n.*3189-50C>G
ENST00000684341.1:n.3296-50C>G
ENST00000684383.1:c.*2914-50C>G	ENSP00000506863.1:n.*2914-50C>G
ENST00000684418.1:n.4457-50C>G
ENST00000684454.1:n.2626-50C>G
ENST00000684619.1:c.*3148-50C>G	ENSP00000508088.1:n.*3148-50C>G
ENST00000684743.1:n.4307-50C>G
ENST00000260665.12:c.3276-50C>G MANE Select	ENSP00000260665.7:n.3276-50C>G
ENST00000260665.11:c.3276-50C>G	ENSP00000260665.7:n.3276-50C>G
NM_133259.3:c.3276-50C>G	NP_573566.2:n.3276-50C>G
XM_006711915.2:c.3198-50C>G	XP_006711978.1:n.3198-50C>G
XM_011532473.1:c.3276-50C>G	XP_011530775.1:n.3276-50C>G
XM_011532474.1:c.3276-50C>G	XP_011530776.1:n.3276-50C>G
XM_017003117.1:c.3198-50C>G	XP_016858606.1:n.3198-50C>G
XR_002958896.1:n.3318-50C>G
NM_133259.4:c.3276-50C>G MANE Select	NP_573566.2:n.3276-50C>G