Canonical Allele Identifier: CA346667978

Gene: LRPPRC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.673A>T
ENST00000682295.1:c.303+204A>T	ENSP00000507499.1:n.303+204A>T
ENST00000682303.1:c.*2907A>T	ENSP00000508325.1:n.*2907A>T
ENST00000682308.1:c.3121A>T	ENSP00000507056.1:p.Ile1041Phe
ENST00000682480.1:c.3139A>T	ENSP00000508344.1:p.Ile1047Phe
ENST00000682546.1:c.3118A>T	ENSP00000508188.1:p.Ile1040Phe
ENST00000682585.1:c.3121A>T	ENSP00000506885.1:p.Ile1041Phe
ENST00000682595.1:n.3705A>T
ENST00000682607.1:c.1539A>T
ENST00000682779.1:c.3112A>T	ENSP00000507947.1:p.Ile1038Phe
ENST00000682845.1:n.2223A>T
ENST00000682885.1:c.3076A>T	ENSP00000508036.1:p.Ile1026Phe
ENST00000682933.1:n.3195A>T
ENST00000683072.1:n.3705A>T
ENST00000683080.1:n.740A>T
ENST00000683125.1:c.3229A>T	ENSP00000507939.1:p.Ile1077Phe
ENST00000683213.1:c.3124A>T	ENSP00000507751.1:p.Ile1042Phe
ENST00000683220.1:c.3151A>T	ENSP00000507151.1:p.Ile1051Phe
ENST00000683329.1:n.3924A>T
ENST00000683346.1:c.*2996A>T	ENSP00000507458.1:n.*2996A>T
ENST00000683409.1:n.1728A>T
ENST00000683459.1:n.3708A>T
ENST00000683590.1:c.2897-5494A>T	ENSP00000506820.1:n.2897-5494A>T
ENST00000683623.1:c.3028A>T	ENSP00000507702.1:p.Ile1010Phe
ENST00000683645.1:n.3672A>T
ENST00000683796.1:c.*2993A>T	ENSP00000508221.1:n.*2993A>T
ENST00000683802.1:n.6046A>T
ENST00000683833.1:c.3112A>T	ENSP00000506852.1:p.Ile1038Phe
ENST00000683994.1:c.3121A>T	ENSP00000507181.1:p.Ile1041Phe
ENST00000684290.1:c.*657A>T	ENSP00000507243.1:n.*657A>T
ENST00000684306.1:c.*3034A>T	ENSP00000508384.1:n.*3034A>T
ENST00000684341.1:n.3141A>T
ENST00000684383.1:c.*2759A>T	ENSP00000506863.1:n.*2759A>T
ENST00000684619.1:c.*2993A>T	ENSP00000508088.1:n.*2993A>T
ENST00000684705.1:n.242A>T
ENST00000684743.1:n.4152A>T
ENST00000260665.12:c.3121A>T MANE Select	ENSP00000260665.7:p.Ile1041Phe
ENST00000260665.11:c.3121A>T	ENSP00000260665.7:p.Ile1041Phe
NM_133259.3:c.3121A>T	NP_573566.2:p.Ile1041Phe
XM_006711915.2:c.3043A>T	XP_006711978.1:p.Ile1015Phe
XM_006711916.2:c.3121A>T	XP_006711979.1:p.Ile1041Phe
XM_011532473.1:c.3121A>T	XP_011530775.1:p.Ile1041Phe
XM_011532474.1:c.3121A>T	XP_011530776.1:p.Ile1041Phe
XM_006711916.3:c.3121A>T	XP_006711979.1:p.Ile1041Phe
XM_017003117.1:c.3043A>T	XP_016858606.1:p.Ile1015Phe
XR_002958896.1:n.3163A>T
NM_133259.4:c.3121A>T MANE Select	NP_573566.2:p.Ile1041Phe