Canonical Allele Identifier: CA346668644

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145515T>A (hg19) ; chr2:g.43918376T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918376T>A , CM000664.2:g.43918376T>A	GRCh38
NC_000002.11:g.44145515T>A , CM000664.1:g.44145515T>A	GRCh37
NC_000002.10:g.43999019T>A	NCBI36
NG_008247.1:g.82630A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.471A>T
ENST00000682295.1:c.183A>T	ENSP00000507499.1:p.Arg61Ser
ENST00000682303.1:c.*2705A>T	ENSP00000508325.1:n.*2705A>T
ENST00000682308.1:c.2919A>T	ENSP00000507056.1:p.Arg973Ser
ENST00000682480.1:c.2919A>T	ENSP00000508344.1:p.Arg973Ser
ENST00000682546.1:c.2916A>T	ENSP00000508188.1:p.Arg972Ser
ENST00000682585.1:c.2919A>T	ENSP00000506885.1:p.Arg973Ser
ENST00000682595.1:n.3503A>T
ENST00000682607.1:c.1337A>T
ENST00000682779.1:c.2910A>T	ENSP00000507947.1:p.Arg970Ser
ENST00000682845.1:n.2021A>T
ENST00000682885.1:c.2874A>T	ENSP00000508036.1:p.Arg958Ser
ENST00000682933.1:n.2993A>T
ENST00000683072.1:n.3503A>T
ENST00000683080.1:n.538A>T
ENST00000683125.1:c.3027A>T	ENSP00000507939.1:p.Arg1009Ser
ENST00000683213.1:c.2922A>T	ENSP00000507751.1:p.Arg974Ser
ENST00000683220.1:c.2949A>T	ENSP00000507151.1:p.Arg983Ser
ENST00000683236.1:c.249A>T	ENSP00000506891.1:n.249A>T
ENST00000683329.1:n.3722A>T
ENST00000683346.1:c.*2794A>T	ENSP00000507458.1:n.*2794A>T
ENST00000683409.1:n.1526A>T
ENST00000683459.1:n.3506A>T
ENST00000683590.1:c.2897-5818A>T	ENSP00000506820.1:n.2897-5818A>T
ENST00000683623.1:c.2826A>T	ENSP00000507702.1:p.Arg942Ser
ENST00000683645.1:n.3470A>T
ENST00000683796.1:c.*2791A>T	ENSP00000508221.1:n.*2791A>T
ENST00000683802.1:n.5844A>T
ENST00000683833.1:c.2910A>T	ENSP00000506852.1:p.Arg970Ser
ENST00000683994.1:c.2919A>T	ENSP00000507181.1:p.Arg973Ser
ENST00000684290.1:c.*455A>T	ENSP00000507243.1:n.*455A>T
ENST00000684306.1:c.*2832A>T	ENSP00000508384.1:n.*2832A>T
ENST00000684341.1:n.2939A>T
ENST00000684383.1:c.*2557A>T	ENSP00000506863.1:n.*2557A>T
ENST00000684619.1:c.*2791A>T	ENSP00000508088.1:n.*2791A>T
ENST00000684705.1:n.40A>T
ENST00000684743.1:n.3950A>T
ENST00000260665.12:c.2919A>T MANE Select	ENSP00000260665.7:p.Arg973Ser
ENST00000260665.11:c.2919A>T	ENSP00000260665.7:p.Arg973Ser
NM_133259.3:c.2919A>T	NP_573566.2:p.Arg973Ser
XM_006711915.2:c.2841A>T	XP_006711978.1:p.Arg947Ser
XM_006711916.2:c.2919A>T	XP_006711979.1:p.Arg973Ser
XM_011532473.1:c.2919A>T	XP_011530775.1:p.Arg973Ser
XM_011532474.1:c.2919A>T	XP_011530776.1:p.Arg973Ser
XM_006711916.3:c.2919A>T	XP_006711979.1:p.Arg973Ser
XM_017003117.1:c.2841A>T	XP_016858606.1:p.Arg947Ser
XR_002958896.1:n.2961A>T
NM_133259.4:c.2919A>T MANE Select	NP_573566.2:p.Arg973Ser