Canonical Allele Identifier: CA346675949

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1672759564
• gnomAD v3: 2-43948125-A-C
• gnomAD v4: 2-43948125-A-C
• MyVariant Identifiers: chr2:g.44175264A>C (hg19) ; chr2:g.43948125A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948125A>C , CM000664.2:g.43948125A>C	GRCh38
NC_000002.11:g.44175264A>C , CM000664.1:g.44175264A>C	GRCh37
NC_000002.10:g.44028768A>C	NCBI36
NG_008247.1:g.52881T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1917T>G	ENSP00000386562.2:p.Ile639Met
ENST00000447246.2:c.1917T>G	ENSP00000403637.2:p.Ile639Met
ENST00000681959.1:n.1531T>G
ENST00000681961.1:n.1937T>G
ENST00000682104.1:c.1791T>G	ENSP00000507716.1:p.Ile597Met
ENST00000682303.1:c.*1789T>G	ENSP00000508325.1:n.*1789T>G
ENST00000682308.1:c.1917T>G	ENSP00000507056.1:p.Ile639Met
ENST00000682480.1:c.1917T>G	ENSP00000508344.1:p.Ile639Met
ENST00000682546.1:c.1914T>G	ENSP00000508188.1:p.Ile638Met
ENST00000682585.1:c.1917T>G	ENSP00000506885.1:p.Ile639Met
ENST00000682595.1:n.2499T>G
ENST00000682607.1:c.335T>G
ENST00000682779.1:c.1908T>G	ENSP00000507947.1:p.Ile636Met
ENST00000682885.1:c.1917T>G	ENSP00000508036.1:p.Ile639Met
ENST00000682933.1:n.1991T>G
ENST00000683072.1:n.2499T>G
ENST00000683082.1:n.1935T>G
ENST00000683125.1:c.1917T>G	ENSP00000507939.1:p.Ile639Met
ENST00000683213.1:c.1920T>G	ENSP00000507751.1:p.Ile640Met
ENST00000683220.1:c.1947T>G	ENSP00000507151.1:p.Ile649Met
ENST00000683329.1:n.2720T>G
ENST00000683346.1:c.*1792T>G	ENSP00000507458.1:n.*1792T>G
ENST00000683459.1:n.2504T>G
ENST00000683590.1:c.1917T>G	ENSP00000506820.1:p.Ile639Met
ENST00000683623.1:c.1917T>G	ENSP00000507702.1:p.Ile639Met
ENST00000683645.1:n.2468T>G
ENST00000683694.1:n.668T>G
ENST00000683796.1:c.*1789T>G	ENSP00000508221.1:n.*1789T>G
ENST00000683802.1:n.4842T>G
ENST00000683833.1:c.1908T>G	ENSP00000506852.1:p.Ile636Met
ENST00000683934.1:c.1803T>G
ENST00000683989.1:c.1917T>G	ENSP00000507510.1:p.Ile639Met
ENST00000683994.1:c.1917T>G	ENSP00000507181.1:p.Ile639Met
ENST00000684290.1:c.1917T>G	ENSP00000507243.1:p.Ile639Met
ENST00000684306.1:c.*1830T>G	ENSP00000508384.1:n.*1830T>G
ENST00000684341.1:n.1937T>G
ENST00000684383.1:c.*1555T>G	ENSP00000506863.1:n.*1555T>G
ENST00000684482.1:c.4386T>G
ENST00000684619.1:c.*1789T>G	ENSP00000508088.1:n.*1789T>G
ENST00000684743.1:n.2948T>G
ENST00000260665.12:c.1917T>G MANE Select	ENSP00000260665.7:p.Ile639Met
ENST00000260665.11:c.1917T>G	ENSP00000260665.7:p.Ile639Met
NM_133259.3:c.1917T>G	NP_573566.2:p.Ile639Met
XM_006711915.2:c.1839T>G	XP_006711978.1:p.Ile613Met
XM_006711916.2:c.1917T>G	XP_006711979.1:p.Ile639Met
XM_011532473.1:c.1917T>G	XP_011530775.1:p.Ile639Met
XM_011532474.1:c.1917T>G	XP_011530776.1:p.Ile639Met
XM_006711916.3:c.1917T>G	XP_006711979.1:p.Ile639Met
XM_017003117.1:c.1839T>G	XP_016858606.1:p.Ile613Met
XR_002958896.1:n.1959T>G
NM_133259.4:c.1917T>G MANE Select	NP_573566.2:p.Ile639Met