Canonical Allele Identifier: CA532278678

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1459623820
• gnomAD v2: 2-44145590-C-G
• gnomAD v4: 2-43918451-C-G
• MyVariant Identifiers: chr2:g.44145590C>G (hg19) ; chr2:g.43918451C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918451C>G , CM000664.2:g.43918451C>G	GRCh38
NC_000002.11:g.44145590C>G , CM000664.1:g.44145590C>G	GRCh37
NC_000002.10:g.43999094C>G	NCBI36
NG_008247.1:g.82555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.396G>C
ENST00000682295.1:c.161-53G>C	ENSP00000507499.1:n.161-53G>C
ENST00000682303.1:c.*2683-53G>C	ENSP00000508325.1:n.*2683-53G>C
ENST00000682308.1:c.2897-53G>C	ENSP00000507056.1:n.2897-53G>C
ENST00000682480.1:c.2897-53G>C	ENSP00000508344.1:n.2897-53G>C
ENST00000682546.1:c.2894-53G>C	ENSP00000508188.1:n.2894-53G>C
ENST00000682585.1:c.2897-53G>C	ENSP00000506885.1:n.2897-53G>C
ENST00000682595.1:n.3481-53G>C
ENST00000682607.1:c.1315-53G>C
ENST00000682779.1:c.2888-53G>C	ENSP00000507947.1:n.2888-53G>C
ENST00000682845.1:n.1999-53G>C
ENST00000682885.1:c.2852-53G>C	ENSP00000508036.1:n.2852-53G>C
ENST00000682933.1:n.2971-53G>C
ENST00000683072.1:n.3481-53G>C
ENST00000683080.1:n.516-53G>C
ENST00000683125.1:c.3005-53G>C	ENSP00000507939.1:n.3005-53G>C
ENST00000683213.1:c.2900-53G>C	ENSP00000507751.1:n.2900-53G>C
ENST00000683220.1:c.2927-53G>C	ENSP00000507151.1:n.2927-53G>C
ENST00000683236.1:c.227-53G>C	ENSP00000506891.1:n.227-53G>C
ENST00000683329.1:n.3700-53G>C
ENST00000683346.1:c.*2772-53G>C	ENSP00000507458.1:n.*2772-53G>C
ENST00000683409.1:n.1451G>C
ENST00000683459.1:n.3484-53G>C
ENST00000683590.1:c.2897-5893G>C	ENSP00000506820.1:n.2897-5893G>C
ENST00000683623.1:c.2804-53G>C	ENSP00000507702.1:n.2804-53G>C
ENST00000683645.1:n.3448-53G>C
ENST00000683796.1:c.*2769-53G>C	ENSP00000508221.1:n.*2769-53G>C
ENST00000683802.1:n.5822-53G>C
ENST00000683833.1:c.2888-53G>C	ENSP00000506852.1:n.2888-53G>C
ENST00000683994.1:c.2897-53G>C	ENSP00000507181.1:n.2897-53G>C
ENST00000684290.1:c.*433-53G>C	ENSP00000507243.1:n.*433-53G>C
ENST00000684306.1:c.*2810-53G>C	ENSP00000508384.1:n.*2810-53G>C
ENST00000684341.1:n.2917-53G>C
ENST00000684383.1:c.*2535-53G>C	ENSP00000506863.1:n.*2535-53G>C
ENST00000684619.1:c.*2769-53G>C	ENSP00000508088.1:n.*2769-53G>C
ENST00000684743.1:n.3928-53G>C
ENST00000260665.12:c.2897-53G>C MANE Select	ENSP00000260665.7:n.2897-53G>C
ENST00000260665.11:c.2897-53G>C	ENSP00000260665.7:n.2897-53G>C
NM_133259.3:c.2897-53G>C	NP_573566.2:n.2897-53G>C
XM_006711915.2:c.2819-53G>C	XP_006711978.1:n.2819-53G>C
XM_006711916.2:c.2897-53G>C	XP_006711979.1:n.2897-53G>C
XM_011532473.1:c.2897-53G>C	XP_011530775.1:n.2897-53G>C
XM_011532474.1:c.2897-53G>C	XP_011530776.1:n.2897-53G>C
XM_006711916.3:c.2897-53G>C	XP_006711979.1:n.2897-53G>C
XM_017003117.1:c.2819-53G>C	XP_016858606.1:n.2819-53G>C
XR_002958896.1:n.2939-53G>C
NM_133259.4:c.2897-53G>C MANE Select	NP_573566.2:n.2897-53G>C