Canonical Allele Identifier: CA346667923

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1252621263
• gnomAD v2: 2-44145178-A-G
• gnomAD v4: 2-43918039-A-G
• MyVariant Identifiers: chr2:g.44145178A>G (hg19) ; chr2:g.43918039A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918039A>G , CM000664.2:g.43918039A>G	GRCh38
NC_000002.11:g.44145178A>G , CM000664.1:g.44145178A>G	GRCh37
NC_000002.10:g.43998682A>G	NCBI36
NG_008247.1:g.82967T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.686T>C
ENST00000682295.1:c.303+217T>C	ENSP00000507499.1:n.303+217T>C
ENST00000682303.1:c.*2920T>C	ENSP00000508325.1:n.*2920T>C
ENST00000682308.1:c.3134T>C	ENSP00000507056.1:p.Leu1045Ser
ENST00000682480.1:c.3152T>C	ENSP00000508344.1:p.Leu1051Ser
ENST00000682546.1:c.3131T>C	ENSP00000508188.1:p.Leu1044Ser
ENST00000682585.1:c.3134T>C	ENSP00000506885.1:p.Leu1045Ser
ENST00000682595.1:n.3718T>C
ENST00000682607.1:c.1552T>C
ENST00000682779.1:c.3125T>C	ENSP00000507947.1:p.Leu1042Ser
ENST00000682845.1:n.2236T>C
ENST00000682885.1:c.3089T>C	ENSP00000508036.1:p.Leu1030Ser
ENST00000682933.1:n.3208T>C
ENST00000683072.1:n.3718T>C
ENST00000683080.1:n.753T>C
ENST00000683125.1:c.3242T>C	ENSP00000507939.1:p.Leu1081Ser
ENST00000683213.1:c.3137T>C	ENSP00000507751.1:p.Leu1046Ser
ENST00000683220.1:c.3164T>C	ENSP00000507151.1:p.Leu1055Ser
ENST00000683329.1:n.3937T>C
ENST00000683346.1:c.*3009T>C	ENSP00000507458.1:n.*3009T>C
ENST00000683409.1:n.1741T>C
ENST00000683459.1:n.3721T>C
ENST00000683590.1:c.2897-5481T>C	ENSP00000506820.1:n.2897-5481T>C
ENST00000683623.1:c.3041T>C	ENSP00000507702.1:p.Leu1014Ser
ENST00000683645.1:n.3685T>C
ENST00000683796.1:c.*3006T>C	ENSP00000508221.1:n.*3006T>C
ENST00000683802.1:n.6059T>C
ENST00000683833.1:c.3125T>C	ENSP00000506852.1:p.Leu1042Ser
ENST00000683994.1:c.3134T>C	ENSP00000507181.1:p.Leu1045Ser
ENST00000684290.1:c.*670T>C	ENSP00000507243.1:n.*670T>C
ENST00000684306.1:c.*3047T>C	ENSP00000508384.1:n.*3047T>C
ENST00000684341.1:n.3154T>C
ENST00000684383.1:c.*2772T>C	ENSP00000506863.1:n.*2772T>C
ENST00000684619.1:c.*3006T>C	ENSP00000508088.1:n.*3006T>C
ENST00000684705.1:n.255T>C
ENST00000684743.1:n.4165T>C
ENST00000260665.12:c.3134T>C MANE Select	ENSP00000260665.7:p.Leu1045Ser
ENST00000260665.11:c.3134T>C	ENSP00000260665.7:p.Leu1045Ser
NM_133259.3:c.3134T>C	NP_573566.2:p.Leu1045Ser
XM_006711915.2:c.3056T>C	XP_006711978.1:p.Leu1019Ser
XM_006711916.2:c.3134T>C	XP_006711979.1:p.Leu1045Ser
XM_011532473.1:c.3134T>C	XP_011530775.1:p.Leu1045Ser
XM_011532474.1:c.3134T>C	XP_011530776.1:p.Leu1045Ser
XM_006711916.3:c.3134T>C	XP_006711979.1:p.Leu1045Ser
XM_017003117.1:c.3056T>C	XP_016858606.1:p.Leu1019Ser
XR_002958896.1:n.3176T>C
NM_133259.4:c.3134T>C MANE Select	NP_573566.2:p.Leu1045Ser