Canonical Allele Identifier: CA1638520

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2223211
• ClinVar RCV Id: RCV002678383
• dbSNP Id: rs769581138
• ExAC: 2:44172472 T / G
• gnomAD v2: 2-44172472-T-G
• gnomAD v3: 2-43945333-T-G
• gnomAD v4: 2-43945333-T-G
• MyVariant Identifiers: chr2:g.44172472T>G (hg19) ; chr2:g.43945333T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945333T>G , CM000664.2:g.43945333T>G	GRCh38
NC_000002.11:g.44172472T>G , CM000664.1:g.44172472T>G	GRCh37
NC_000002.10:g.44025976T>G	NCBI36
NG_008247.1:g.55673A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2295A>C	ENSP00000386562.2:p.Gln765His
ENST00000447246.2:c.2295A>C	ENSP00000403637.2:p.Gln765His
ENST00000681961.1:n.2315A>C
ENST00000682104.1:c.2169A>C	ENSP00000507716.1:p.Gln723His
ENST00000682303.1:c.*2082+780A>C	ENSP00000508325.1:n.*2082+780A>C
ENST00000682308.1:c.2295A>C	ENSP00000507056.1:p.Gln765His
ENST00000682480.1:c.2295A>C	ENSP00000508344.1:p.Gln765His
ENST00000682546.1:c.2292A>C	ENSP00000508188.1:p.Gln764His
ENST00000682585.1:c.2295A>C	ENSP00000506885.1:p.Gln765His
ENST00000682595.1:n.2877A>C
ENST00000682607.1:c.713A>C
ENST00000682779.1:c.2286A>C	ENSP00000507947.1:p.Gln762His
ENST00000682885.1:c.2250A>C	ENSP00000508036.1:p.Gln750His
ENST00000682933.1:n.2369A>C
ENST00000683072.1:n.2877A>C
ENST00000683125.1:c.2295A>C	ENSP00000507939.1:p.Gln765His
ENST00000683213.1:c.2298A>C	ENSP00000507751.1:p.Gln766His
ENST00000683220.1:c.2325A>C	ENSP00000507151.1:p.Gln775His
ENST00000683329.1:n.3098A>C
ENST00000683346.1:c.*2170A>C	ENSP00000507458.1:n.*2170A>C
ENST00000683459.1:n.2882A>C
ENST00000683590.1:c.2295A>C	ENSP00000506820.1:p.Gln765His
ENST00000683623.1:c.2295A>C	ENSP00000507702.1:p.Gln765His
ENST00000683645.1:n.2846A>C
ENST00000683694.1:n.1046A>C
ENST00000683796.1:c.*2167A>C	ENSP00000508221.1:n.*2167A>C
ENST00000683802.1:n.5220A>C
ENST00000683833.1:c.2286A>C	ENSP00000506852.1:p.Gln762His
ENST00000683934.1:c.2181A>C
ENST00000683989.1:c.2295A>C	ENSP00000507510.1:p.Gln765His
ENST00000683994.1:c.2295A>C	ENSP00000507181.1:p.Gln765His
ENST00000684290.1:c.2210+780A>C	ENSP00000507243.1:n.2210+780A>C
ENST00000684306.1:c.*2208A>C	ENSP00000508384.1:n.*2208A>C
ENST00000684341.1:n.2315A>C
ENST00000684383.1:c.*1933A>C	ENSP00000506863.1:n.*1933A>C
ENST00000684619.1:c.*2167A>C	ENSP00000508088.1:n.*2167A>C
ENST00000684743.1:n.3326A>C
ENST00000260665.12:c.2295A>C MANE Select	ENSP00000260665.7:p.Gln765His
ENST00000260665.11:c.2295A>C	ENSP00000260665.7:p.Gln765His
NM_133259.3:c.2295A>C	NP_573566.2:p.Gln765His
XM_006711915.2:c.2217A>C	XP_006711978.1:p.Gln739His
XM_006711916.2:c.2295A>C	XP_006711979.1:p.Gln765His
XM_011532473.1:c.2295A>C	XP_011530775.1:p.Gln765His
XM_011532474.1:c.2295A>C	XP_011530776.1:p.Gln765His
XM_006711916.3:c.2295A>C	XP_006711979.1:p.Gln765His
XM_017003117.1:c.2217A>C	XP_016858606.1:p.Gln739His
XR_002958896.1:n.2337A>C
NM_133259.4:c.2295A>C MANE Select	NP_573566.2:p.Gln765His