Canonical Allele Identifier: CA346668200

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145236A>C (hg19) ; chr2:g.43918097A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918097A>C , CM000664.2:g.43918097A>C	GRCh38
NC_000002.11:g.44145236A>C , CM000664.1:g.44145236A>C	GRCh37
NC_000002.10:g.43998740A>C	NCBI36
NG_008247.1:g.82909T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.628T>G
ENST00000682295.1:c.303+159T>G	ENSP00000507499.1:n.303+159T>G
ENST00000682303.1:c.*2862T>G	ENSP00000508325.1:n.*2862T>G
ENST00000682308.1:c.3076T>G	ENSP00000507056.1:p.Ser1026Ala
ENST00000682480.1:c.3094T>G	ENSP00000508344.1:p.Ser1032Ala
ENST00000682546.1:c.3073T>G	ENSP00000508188.1:p.Ser1025Ala
ENST00000682585.1:c.3076T>G	ENSP00000506885.1:p.Ser1026Ala
ENST00000682595.1:n.3660T>G
ENST00000682607.1:c.1494T>G
ENST00000682779.1:c.3067T>G	ENSP00000507947.1:p.Ser1023Ala
ENST00000682845.1:n.2178T>G
ENST00000682885.1:c.3031T>G	ENSP00000508036.1:p.Ser1011Ala
ENST00000682933.1:n.3150T>G
ENST00000683072.1:n.3660T>G
ENST00000683080.1:n.695T>G
ENST00000683125.1:c.3184T>G	ENSP00000507939.1:p.Ser1062Ala
ENST00000683213.1:c.3079T>G	ENSP00000507751.1:p.Ser1027Ala
ENST00000683220.1:c.3106T>G	ENSP00000507151.1:p.Ser1036Ala
ENST00000683329.1:n.3879T>G
ENST00000683346.1:c.*2951T>G	ENSP00000507458.1:n.*2951T>G
ENST00000683409.1:n.1683T>G
ENST00000683459.1:n.3663T>G
ENST00000683590.1:c.2897-5539T>G	ENSP00000506820.1:n.2897-5539T>G
ENST00000683623.1:c.2983T>G	ENSP00000507702.1:p.Ser995Ala
ENST00000683645.1:n.3627T>G
ENST00000683796.1:c.*2948T>G	ENSP00000508221.1:n.*2948T>G
ENST00000683802.1:n.6001T>G
ENST00000683833.1:c.3067T>G	ENSP00000506852.1:p.Ser1023Ala
ENST00000683994.1:c.3076T>G	ENSP00000507181.1:p.Ser1026Ala
ENST00000684290.1:c.*612T>G	ENSP00000507243.1:n.*612T>G
ENST00000684306.1:c.*2989T>G	ENSP00000508384.1:n.*2989T>G
ENST00000684341.1:n.3096T>G
ENST00000684383.1:c.*2714T>G	ENSP00000506863.1:n.*2714T>G
ENST00000684619.1:c.*2948T>G	ENSP00000508088.1:n.*2948T>G
ENST00000684705.1:n.197T>G
ENST00000684743.1:n.4107T>G
ENST00000260665.12:c.3076T>G MANE Select	ENSP00000260665.7:p.Ser1026Ala
ENST00000260665.11:c.3076T>G	ENSP00000260665.7:p.Ser1026Ala
NM_133259.3:c.3076T>G	NP_573566.2:p.Ser1026Ala
XM_006711915.2:c.2998T>G	XP_006711978.1:p.Ser1000Ala
XM_006711916.2:c.3076T>G	XP_006711979.1:p.Ser1026Ala
XM_011532473.1:c.3076T>G	XP_011530775.1:p.Ser1026Ala
XM_011532474.1:c.3076T>G	XP_011530776.1:p.Ser1026Ala
XM_006711916.3:c.3076T>G	XP_006711979.1:p.Ser1026Ala
XM_017003117.1:c.2998T>G	XP_016858606.1:p.Ser1000Ala
XR_002958896.1:n.3118T>G
NM_133259.4:c.3076T>G MANE Select	NP_573566.2:p.Ser1026Ala