Canonical Allele Identifier: CA1638922

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 991298
• ClinVar RCV Id: RCV001279489 ; RCV001469929
• dbSNP Id: rs775445022
• ExAC: 2:44187684 T / C
• gnomAD v2: 2-44187684-T-C
• gnomAD v4: 2-43960545-T-C
• MyVariant Identifiers: chr2:g.44187684T>C (hg19) ; chr2:g.43960545T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43960545T>C , CM000664.2:g.43960545T>C	GRCh38
NC_000002.11:g.44187684T>C , CM000664.1:g.44187684T>C	GRCh37
NC_000002.10:g.44041188T>C	NCBI36
NG_008247.1:g.40461A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.1578A>G	ENSP00000386562.2:p.Ser526=
ENST00000409946.6:c.1578A>G	ENSP00000386234.1:p.Ser526=
ENST00000447246.2:c.1578A>G	ENSP00000403637.2:p.Ser526=
ENST00000467058.2:n.307A>G
ENST00000681959.1:n.1192A>G
ENST00000681961.1:n.1598A>G
ENST00000682104.1:c.1452A>G	ENSP00000507716.1:p.Ser484=
ENST00000682303.1:c.*1450A>G	ENSP00000508325.1:n.*1450A>G
ENST00000682308.1:c.1578A>G	ENSP00000507056.1:p.Ser526=
ENST00000682480.1:c.1578A>G	ENSP00000508344.1:p.Ser526=
ENST00000682546.1:c.1578A>G	ENSP00000508188.1:p.Ser526=
ENST00000682585.1:c.1578A>G	ENSP00000506885.1:p.Ser526=
ENST00000682595.1:n.2160A>G
ENST00000682779.1:c.1569A>G	ENSP00000507947.1:p.Ser523=
ENST00000682885.1:c.1578A>G	ENSP00000508036.1:p.Ser526=
ENST00000683072.1:n.2160A>G
ENST00000683082.1:n.1596A>G
ENST00000683125.1:c.1578A>G	ENSP00000507939.1:p.Ser526=
ENST00000683213.1:c.1581A>G	ENSP00000507751.1:p.Ser527=
ENST00000683220.1:c.1578A>G	ENSP00000507151.1:p.Ser526=
ENST00000683329.1:n.2381A>G
ENST00000683346.1:c.*1453A>G	ENSP00000507458.1:n.*1453A>G
ENST00000683459.1:n.2165A>G
ENST00000683590.1:c.1578A>G	ENSP00000506820.1:p.Ser526=
ENST00000683623.1:c.1578A>G	ENSP00000507702.1:p.Ser526=
ENST00000683694.1:n.329A>G
ENST00000683796.1:c.*1450A>G	ENSP00000508221.1:n.*1450A>G
ENST00000683802.1:n.1414A>G
ENST00000683833.1:c.1569A>G	ENSP00000506852.1:p.Ser523=
ENST00000683934.1:c.1232A>G
ENST00000683989.1:c.1578A>G	ENSP00000507510.1:p.Ser526=
ENST00000683994.1:c.1578A>G	ENSP00000507181.1:p.Ser526=
ENST00000684290.1:c.1578A>G	ENSP00000507243.1:p.Ser526=
ENST00000684306.1:c.*1491A>G	ENSP00000508384.1:n.*1491A>G
ENST00000684341.1:n.1598A>G
ENST00000684383.1:c.*1216A>G	ENSP00000506863.1:n.*1216A>G
ENST00000684482.1:c.1232A>G
ENST00000684619.1:c.*1450A>G	ENSP00000508088.1:n.*1450A>G
ENST00000260665.12:c.1578A>G MANE Select	ENSP00000260665.7:p.Ser526=
ENST00000260665.11:c.1578A>G	ENSP00000260665.7:p.Ser526=
ENST00000409946.5:c.1578A>G	ENSP00000386234.1:p.Ser526=
ENST00000467058.1:n.307A>G
NM_133259.3:c.1578A>G	NP_573566.2:p.Ser526=
XM_006711915.2:c.1500A>G	XP_006711978.1:p.Ser500=
XM_006711916.2:c.1578A>G	XP_006711979.1:p.Ser526=
XM_011532473.1:c.1578A>G	XP_011530775.1:p.Ser526=
XM_011532474.1:c.1578A>G	XP_011530776.1:p.Ser526=
XM_006711916.3:c.1578A>G	XP_006711979.1:p.Ser526=
XM_017003117.1:c.1500A>G	XP_016858606.1:p.Ser500=
XR_002958896.1:n.1620A>G
NM_133259.4:c.1578A>G MANE Select	NP_573566.2:p.Ser526=