Canonical Allele Identifier: CA425909773

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43943809-A-G
• MyVariant Identifiers: chr2:g.44170948A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943809A>G , CM000664.2:g.43943809A>G	GRCh38
NC_000002.11:g.44170948A>G , CM000664.1:g.44170948A>G	GRCh37
NC_000002.10:g.44024452A>G	NCBI36
NG_008247.1:g.57197T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2382T>C	ENSP00000386562.2:p.Asn794=
ENST00000447246.2:c.2382T>C	ENSP00000403637.2:p.Asn794=
ENST00000681961.1:n.2402T>C
ENST00000682104.1:c.2256T>C	ENSP00000507716.1:p.Asn752=
ENST00000682303.1:c.*2168T>C	ENSP00000508325.1:n.*2168T>C
ENST00000682308.1:c.2382T>C	ENSP00000507056.1:p.Asn794=
ENST00000682480.1:c.2382T>C	ENSP00000508344.1:p.Asn794=
ENST00000682546.1:c.2379T>C	ENSP00000508188.1:p.Asn793=
ENST00000682585.1:c.2382T>C	ENSP00000506885.1:p.Asn794=
ENST00000682595.1:n.2964T>C
ENST00000682607.1:c.800T>C
ENST00000682779.1:c.2373T>C	ENSP00000507947.1:p.Asn791=
ENST00000682845.1:n.1484T>C
ENST00000682885.1:c.2337T>C	ENSP00000508036.1:p.Asn779=
ENST00000682933.1:n.2456T>C
ENST00000683072.1:n.2964T>C
ENST00000683125.1:c.2382T>C	ENSP00000507939.1:p.Asn794=
ENST00000683213.1:c.2385T>C	ENSP00000507751.1:p.Asn795=
ENST00000683220.1:c.2412T>C	ENSP00000507151.1:p.Asn804=
ENST00000683329.1:n.3185T>C
ENST00000683346.1:c.*2257T>C	ENSP00000507458.1:n.*2257T>C
ENST00000683459.1:n.2969T>C
ENST00000683590.1:c.2382T>C	ENSP00000506820.1:p.Asn794=
ENST00000683623.1:c.2297-8T>C	ENSP00000507702.1:n.2297-8T>C
ENST00000683645.1:n.2933T>C
ENST00000683694.1:n.1133T>C
ENST00000683796.1:c.*2254T>C	ENSP00000508221.1:n.*2254T>C
ENST00000683802.1:n.5307T>C
ENST00000683833.1:c.2373T>C	ENSP00000506852.1:p.Asn791=
ENST00000683989.1:c.2382T>C	ENSP00000507510.1:p.Asn794=
ENST00000683994.1:c.2382T>C	ENSP00000507181.1:p.Asn794=
ENST00000684290.1:c.*76T>C	ENSP00000507243.1:n.*76T>C
ENST00000684306.1:c.*2295T>C	ENSP00000508384.1:n.*2295T>C
ENST00000684341.1:n.2402T>C
ENST00000684383.1:c.*2020T>C	ENSP00000506863.1:n.*2020T>C
ENST00000684397.1:c.86T>C
ENST00000684619.1:c.*2254T>C	ENSP00000508088.1:n.*2254T>C
ENST00000684743.1:n.3413T>C
ENST00000260665.12:c.2382T>C MANE Select	ENSP00000260665.7:p.Asn794=
ENST00000260665.11:c.2382T>C	ENSP00000260665.7:p.Asn794=
NM_133259.3:c.2382T>C	NP_573566.2:p.Asn794=
XM_006711915.2:c.2304T>C	XP_006711978.1:p.Asn768=
XM_006711916.2:c.2382T>C	XP_006711979.1:p.Asn794=
XM_011532473.1:c.2382T>C	XP_011530775.1:p.Asn794=
XM_011532474.1:c.2382T>C	XP_011530776.1:p.Asn794=
XM_006711916.3:c.2382T>C	XP_006711979.1:p.Asn794=
XM_017003117.1:c.2304T>C	XP_016858606.1:p.Asn768=
XR_002958896.1:n.2424T>C
NM_133259.4:c.2382T>C MANE Select	NP_573566.2:p.Asn794=