Canonical Allele Identifier: CA346667968

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918049-C-T
• MyVariant Identifiers: chr2:g.44145188C>T (hg19) ; chr2:g.43918049C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918049C>T , CM000664.2:g.43918049C>T	GRCh38
NC_000002.11:g.44145188C>T , CM000664.1:g.44145188C>T	GRCh37
NC_000002.10:g.43998692C>T	NCBI36
NG_008247.1:g.82957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.676G>A
ENST00000682295.1:c.303+207G>A	ENSP00000507499.1:n.303+207G>A
ENST00000682303.1:c.*2910G>A	ENSP00000508325.1:n.*2910G>A
ENST00000682308.1:c.3124G>A	ENSP00000507056.1:p.Ala1042Thr
ENST00000682480.1:c.3142G>A	ENSP00000508344.1:p.Ala1048Thr
ENST00000682546.1:c.3121G>A	ENSP00000508188.1:p.Ala1041Thr
ENST00000682585.1:c.3124G>A	ENSP00000506885.1:p.Ala1042Thr
ENST00000682595.1:n.3708G>A
ENST00000682607.1:c.1542G>A
ENST00000682779.1:c.3115G>A	ENSP00000507947.1:p.Ala1039Thr
ENST00000682845.1:n.2226G>A
ENST00000682885.1:c.3079G>A	ENSP00000508036.1:p.Ala1027Thr
ENST00000682933.1:n.3198G>A
ENST00000683072.1:n.3708G>A
ENST00000683080.1:n.743G>A
ENST00000683125.1:c.3232G>A	ENSP00000507939.1:p.Ala1078Thr
ENST00000683213.1:c.3127G>A	ENSP00000507751.1:p.Ala1043Thr
ENST00000683220.1:c.3154G>A	ENSP00000507151.1:p.Ala1052Thr
ENST00000683329.1:n.3927G>A
ENST00000683346.1:c.*2999G>A	ENSP00000507458.1:n.*2999G>A
ENST00000683409.1:n.1731G>A
ENST00000683459.1:n.3711G>A
ENST00000683590.1:c.2897-5491G>A	ENSP00000506820.1:n.2897-5491G>A
ENST00000683623.1:c.3031G>A	ENSP00000507702.1:p.Ala1011Thr
ENST00000683645.1:n.3675G>A
ENST00000683796.1:c.*2996G>A	ENSP00000508221.1:n.*2996G>A
ENST00000683802.1:n.6049G>A
ENST00000683833.1:c.3115G>A	ENSP00000506852.1:p.Ala1039Thr
ENST00000683994.1:c.3124G>A	ENSP00000507181.1:p.Ala1042Thr
ENST00000684290.1:c.*660G>A	ENSP00000507243.1:n.*660G>A
ENST00000684306.1:c.*3037G>A	ENSP00000508384.1:n.*3037G>A
ENST00000684341.1:n.3144G>A
ENST00000684383.1:c.*2762G>A	ENSP00000506863.1:n.*2762G>A
ENST00000684619.1:c.*2996G>A	ENSP00000508088.1:n.*2996G>A
ENST00000684705.1:n.245G>A
ENST00000684743.1:n.4155G>A
ENST00000260665.12:c.3124G>A MANE Select	ENSP00000260665.7:p.Ala1042Thr
ENST00000260665.11:c.3124G>A	ENSP00000260665.7:p.Ala1042Thr
NM_133259.3:c.3124G>A	NP_573566.2:p.Ala1042Thr
XM_006711915.2:c.3046G>A	XP_006711978.1:p.Ala1016Thr
XM_006711916.2:c.3124G>A	XP_006711979.1:p.Ala1042Thr
XM_011532473.1:c.3124G>A	XP_011530775.1:p.Ala1042Thr
XM_011532474.1:c.3124G>A	XP_011530776.1:p.Ala1042Thr
XM_006711916.3:c.3124G>A	XP_006711979.1:p.Ala1042Thr
XM_017003117.1:c.3046G>A	XP_016858606.1:p.Ala1016Thr
XR_002958896.1:n.3166G>A
NM_133259.4:c.3124G>A MANE Select	NP_573566.2:p.Ala1042Thr