Canonical Allele Identifier: CA346667981

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145191T>G (hg19) ; chr2:g.43918052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918052T>G , CM000664.2:g.43918052T>G	GRCh38
NC_000002.11:g.44145191T>G , CM000664.1:g.44145191T>G	GRCh37
NC_000002.10:g.43998695T>G	NCBI36
NG_008247.1:g.82954A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.673A>C
ENST00000682295.1:c.303+204A>C	ENSP00000507499.1:n.303+204A>C
ENST00000682303.1:c.*2907A>C	ENSP00000508325.1:n.*2907A>C
ENST00000682308.1:c.3121A>C	ENSP00000507056.1:p.Ile1041Leu
ENST00000682480.1:c.3139A>C	ENSP00000508344.1:p.Ile1047Leu
ENST00000682546.1:c.3118A>C	ENSP00000508188.1:p.Ile1040Leu
ENST00000682585.1:c.3121A>C	ENSP00000506885.1:p.Ile1041Leu
ENST00000682595.1:n.3705A>C
ENST00000682607.1:c.1539A>C
ENST00000682779.1:c.3112A>C	ENSP00000507947.1:p.Ile1038Leu
ENST00000682845.1:n.2223A>C
ENST00000682885.1:c.3076A>C	ENSP00000508036.1:p.Ile1026Leu
ENST00000682933.1:n.3195A>C
ENST00000683072.1:n.3705A>C
ENST00000683080.1:n.740A>C
ENST00000683125.1:c.3229A>C	ENSP00000507939.1:p.Ile1077Leu
ENST00000683213.1:c.3124A>C	ENSP00000507751.1:p.Ile1042Leu
ENST00000683220.1:c.3151A>C	ENSP00000507151.1:p.Ile1051Leu
ENST00000683329.1:n.3924A>C
ENST00000683346.1:c.*2996A>C	ENSP00000507458.1:n.*2996A>C
ENST00000683409.1:n.1728A>C
ENST00000683459.1:n.3708A>C
ENST00000683590.1:c.2897-5494A>C	ENSP00000506820.1:n.2897-5494A>C
ENST00000683623.1:c.3028A>C	ENSP00000507702.1:p.Ile1010Leu
ENST00000683645.1:n.3672A>C
ENST00000683796.1:c.*2993A>C	ENSP00000508221.1:n.*2993A>C
ENST00000683802.1:n.6046A>C
ENST00000683833.1:c.3112A>C	ENSP00000506852.1:p.Ile1038Leu
ENST00000683994.1:c.3121A>C	ENSP00000507181.1:p.Ile1041Leu
ENST00000684290.1:c.*657A>C	ENSP00000507243.1:n.*657A>C
ENST00000684306.1:c.*3034A>C	ENSP00000508384.1:n.*3034A>C
ENST00000684341.1:n.3141A>C
ENST00000684383.1:c.*2759A>C	ENSP00000506863.1:n.*2759A>C
ENST00000684619.1:c.*2993A>C	ENSP00000508088.1:n.*2993A>C
ENST00000684705.1:n.242A>C
ENST00000684743.1:n.4152A>C
ENST00000260665.12:c.3121A>C MANE Select	ENSP00000260665.7:p.Ile1041Leu
ENST00000260665.11:c.3121A>C	ENSP00000260665.7:p.Ile1041Leu
NM_133259.3:c.3121A>C	NP_573566.2:p.Ile1041Leu
XM_006711915.2:c.3043A>C	XP_006711978.1:p.Ile1015Leu
XM_006711916.2:c.3121A>C	XP_006711979.1:p.Ile1041Leu
XM_011532473.1:c.3121A>C	XP_011530775.1:p.Ile1041Leu
XM_011532474.1:c.3121A>C	XP_011530776.1:p.Ile1041Leu
XM_006711916.3:c.3121A>C	XP_006711979.1:p.Ile1041Leu
XM_017003117.1:c.3043A>C	XP_016858606.1:p.Ile1015Leu
XR_002958896.1:n.3163A>C
NM_133259.4:c.3121A>C MANE Select	NP_573566.2:p.Ile1041Leu