Canonical Allele Identifier: CA425910331

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44175264A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1917T>C	ENSP00000386562.2:p.Ile639=
ENST00000447246.2:c.1917T>C	ENSP00000403637.2:p.Ile639=
ENST00000681959.1:n.1531T>C
ENST00000681961.1:n.1937T>C
ENST00000682104.1:c.1791T>C	ENSP00000507716.1:p.Ile597=
ENST00000682303.1:c.*1789T>C	ENSP00000508325.1:n.*1789T>C
ENST00000682308.1:c.1917T>C	ENSP00000507056.1:p.Ile639=
ENST00000682480.1:c.1917T>C	ENSP00000508344.1:p.Ile639=
ENST00000682546.1:c.1914T>C	ENSP00000508188.1:p.Ile638=
ENST00000682585.1:c.1917T>C	ENSP00000506885.1:p.Ile639=
ENST00000682595.1:n.2499T>C
ENST00000682607.1:c.335T>C
ENST00000682779.1:c.1908T>C	ENSP00000507947.1:p.Ile636=
ENST00000682885.1:c.1917T>C	ENSP00000508036.1:p.Ile639=
ENST00000682933.1:n.1991T>C
ENST00000683072.1:n.2499T>C
ENST00000683082.1:n.1935T>C
ENST00000683125.1:c.1917T>C	ENSP00000507939.1:p.Ile639=
ENST00000683213.1:c.1920T>C	ENSP00000507751.1:p.Ile640=
ENST00000683220.1:c.1947T>C	ENSP00000507151.1:p.Ile649=
ENST00000683329.1:n.2720T>C
ENST00000683346.1:c.*1792T>C	ENSP00000507458.1:n.*1792T>C
ENST00000683459.1:n.2504T>C
ENST00000683590.1:c.1917T>C	ENSP00000506820.1:p.Ile639=
ENST00000683623.1:c.1917T>C	ENSP00000507702.1:p.Ile639=
ENST00000683645.1:n.2468T>C
ENST00000683694.1:n.668T>C
ENST00000683796.1:c.*1789T>C	ENSP00000508221.1:n.*1789T>C
ENST00000683802.1:n.4842T>C
ENST00000683833.1:c.1908T>C	ENSP00000506852.1:p.Ile636=
ENST00000683934.1:c.1803T>C
ENST00000683989.1:c.1917T>C	ENSP00000507510.1:p.Ile639=
ENST00000683994.1:c.1917T>C	ENSP00000507181.1:p.Ile639=
ENST00000684290.1:c.1917T>C	ENSP00000507243.1:p.Ile639=
ENST00000684306.1:c.*1830T>C	ENSP00000508384.1:n.*1830T>C
ENST00000684341.1:n.1937T>C
ENST00000684383.1:c.*1555T>C	ENSP00000506863.1:n.*1555T>C
ENST00000684482.1:c.4386T>C
ENST00000684619.1:c.*1789T>C	ENSP00000508088.1:n.*1789T>C
ENST00000684743.1:n.2948T>C
ENST00000260665.12:c.1917T>C MANE Select	ENSP00000260665.7:p.Ile639=
ENST00000260665.11:c.1917T>C	ENSP00000260665.7:p.Ile639=
NM_133259.3:c.1917T>C	NP_573566.2:p.Ile639=
XM_006711915.2:c.1839T>C	XP_006711978.1:p.Ile613=
XM_006711916.2:c.1917T>C	XP_006711979.1:p.Ile639=
XM_011532473.1:c.1917T>C	XP_011530775.1:p.Ile639=
XM_011532474.1:c.1917T>C	XP_011530776.1:p.Ile639=
XM_006711916.3:c.1917T>C	XP_006711979.1:p.Ile639=
XM_017003117.1:c.1839T>C	XP_016858606.1:p.Ile613=
XR_002958896.1:n.1959T>C
NM_133259.4:c.1917T>C MANE Select	NP_573566.2:p.Ile639=