Canonical Allele Identifier: CA346668252

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1572916679
• gnomAD v4: 2-43918109-A-G
• MyVariant Identifiers: chr2:g.44145248A>G (hg19) ; chr2:g.43918109A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918109A>G , CM000664.2:g.43918109A>G	GRCh38
NC_000002.11:g.44145248A>G , CM000664.1:g.44145248A>G	GRCh37
NC_000002.10:g.43998752A>G	NCBI36
NG_008247.1:g.82897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.616T>C
ENST00000682295.1:c.303+147T>C	ENSP00000507499.1:n.303+147T>C
ENST00000682303.1:c.*2850T>C	ENSP00000508325.1:n.*2850T>C
ENST00000682308.1:c.3064T>C	ENSP00000507056.1:p.Ser1022Pro
ENST00000682480.1:c.3082T>C	ENSP00000508344.1:p.Ser1028Pro
ENST00000682546.1:c.3061T>C	ENSP00000508188.1:p.Ser1021Pro
ENST00000682585.1:c.3064T>C	ENSP00000506885.1:p.Ser1022Pro
ENST00000682595.1:n.3648T>C
ENST00000682607.1:c.1482T>C
ENST00000682779.1:c.3055T>C	ENSP00000507947.1:p.Ser1019Pro
ENST00000682845.1:n.2166T>C
ENST00000682885.1:c.3019T>C	ENSP00000508036.1:p.Ser1007Pro
ENST00000682933.1:n.3138T>C
ENST00000683072.1:n.3648T>C
ENST00000683080.1:n.683T>C
ENST00000683125.1:c.3172T>C	ENSP00000507939.1:p.Ser1058Pro
ENST00000683213.1:c.3067T>C	ENSP00000507751.1:p.Ser1023Pro
ENST00000683220.1:c.3094T>C	ENSP00000507151.1:p.Ser1032Pro
ENST00000683329.1:n.3867T>C
ENST00000683346.1:c.*2939T>C	ENSP00000507458.1:n.*2939T>C
ENST00000683409.1:n.1671T>C
ENST00000683459.1:n.3651T>C
ENST00000683590.1:c.2897-5551T>C	ENSP00000506820.1:n.2897-5551T>C
ENST00000683623.1:c.2971T>C	ENSP00000507702.1:p.Ser991Pro
ENST00000683645.1:n.3615T>C
ENST00000683796.1:c.*2936T>C	ENSP00000508221.1:n.*2936T>C
ENST00000683802.1:n.5989T>C
ENST00000683833.1:c.3055T>C	ENSP00000506852.1:p.Ser1019Pro
ENST00000683994.1:c.3064T>C	ENSP00000507181.1:p.Ser1022Pro
ENST00000684290.1:c.*600T>C	ENSP00000507243.1:n.*600T>C
ENST00000684306.1:c.*2977T>C	ENSP00000508384.1:n.*2977T>C
ENST00000684341.1:n.3084T>C
ENST00000684383.1:c.*2702T>C	ENSP00000506863.1:n.*2702T>C
ENST00000684619.1:c.*2936T>C	ENSP00000508088.1:n.*2936T>C
ENST00000684705.1:n.185T>C
ENST00000684743.1:n.4095T>C
ENST00000260665.12:c.3064T>C MANE Select	ENSP00000260665.7:p.Ser1022Pro
ENST00000260665.11:c.3064T>C	ENSP00000260665.7:p.Ser1022Pro
NM_133259.3:c.3064T>C	NP_573566.2:p.Ser1022Pro
XM_006711915.2:c.2986T>C	XP_006711978.1:p.Ser996Pro
XM_006711916.2:c.3064T>C	XP_006711979.1:p.Ser1022Pro
XM_011532473.1:c.3064T>C	XP_011530775.1:p.Ser1022Pro
XM_011532474.1:c.3064T>C	XP_011530776.1:p.Ser1022Pro
XM_006711916.3:c.3064T>C	XP_006711979.1:p.Ser1022Pro
XM_017003117.1:c.2986T>C	XP_016858606.1:p.Ser996Pro
XR_002958896.1:n.3106T>C
NM_133259.4:c.3064T>C MANE Select	NP_573566.2:p.Ser1022Pro