Canonical Allele Identifier: CA346676755

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126466G>C (hg19) ; chr2:g.43899327G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899327G>C , CM000664.2:g.43899327G>C	GRCh38
NC_000002.11:g.44126466G>C , CM000664.1:g.44126466G>C	GRCh37
NC_000002.10:g.43979970G>C	NCBI36
NG_008247.1:g.101679C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.148C>G
ENST00000472420.6:n.796C>G
ENST00000483489.2:n.148C>G
ENST00000681993.1:n.1269C>G
ENST00000682303.1:c.*3503C>G	ENSP00000508325.1:n.*3503C>G
ENST00000682308.1:c.3717C>G	ENSP00000507056.1:p.Ile1239Met
ENST00000682434.1:n.1268C>G
ENST00000682480.1:c.3735C>G	ENSP00000508344.1:p.Ile1245Met
ENST00000682546.1:c.3714C>G	ENSP00000508188.1:p.Ile1238Met
ENST00000682585.1:c.3717C>G	ENSP00000506885.1:p.Ile1239Met
ENST00000682595.1:n.4301C>G
ENST00000682607.1:c.2135C>G
ENST00000682612.1:c.569C>G
ENST00000682779.1:c.3708C>G	ENSP00000507947.1:p.Ile1236Met
ENST00000682845.1:n.2819C>G
ENST00000682885.1:c.3672C>G	ENSP00000508036.1:p.Ile1224Met
ENST00000682933.1:n.3791C>G
ENST00000683002.1:c.569C>G
ENST00000683072.1:n.4301C>G
ENST00000683080.1:n.1336C>G
ENST00000683125.1:c.3825C>G	ENSP00000507939.1:p.Ile1275Met
ENST00000683213.1:c.3720C>G	ENSP00000507751.1:p.Ile1240Met
ENST00000683220.1:c.3747C>G	ENSP00000507151.1:p.Ile1249Met
ENST00000683329.1:n.4520C>G
ENST00000683346.1:c.*3592C>G	ENSP00000507458.1:n.*3592C>G
ENST00000683409.1:n.2324C>G
ENST00000683459.1:n.4304C>G
ENST00000683528.1:c.645C>G
ENST00000683590.1:c.3465C>G	ENSP00000506820.1:p.Ile1155Met
ENST00000683623.1:c.3624C>G	ENSP00000507702.1:p.Ile1208Met
ENST00000683645.1:n.4268C>G
ENST00000683796.1:c.*3589C>G	ENSP00000508221.1:n.*3589C>G
ENST00000683802.1:n.6642C>G
ENST00000683833.1:c.3708C>G	ENSP00000506852.1:p.Ile1236Met
ENST00000683994.1:c.3717C>G	ENSP00000507181.1:p.Ile1239Met
ENST00000684290.1:c.*1253C>G	ENSP00000507243.1:n.*1253C>G
ENST00000684306.1:c.*3630C>G	ENSP00000508384.1:n.*3630C>G
ENST00000684341.1:n.3737C>G
ENST00000684383.1:c.*3355C>G	ENSP00000506863.1:n.*3355C>G
ENST00000684418.1:n.4898C>G
ENST00000684433.1:n.101C>G
ENST00000684454.1:n.3067C>G
ENST00000684619.1:c.*3589C>G	ENSP00000508088.1:n.*3589C>G
ENST00000684743.1:n.6462C>G
ENST00000260665.12:c.3717C>G MANE Select	ENSP00000260665.7:p.Ile1239Met
ENST00000260665.11:c.3717C>G	ENSP00000260665.7:p.Ile1239Met
ENST00000463456.5:n.2760C>G
ENST00000472420.5:n.114C>G
ENST00000483489.1:n.191C>G
NM_133259.3:c.3717C>G	NP_573566.2:p.Ile1239Met
XM_006711915.2:c.3639C>G	XP_006711978.1:p.Ile1213Met
XM_011532473.1:c.3717C>G	XP_011530775.1:p.Ile1239Met
XM_011532474.1:c.3717C>G	XP_011530776.1:p.Ile1239Met
XM_017003117.1:c.3639C>G	XP_016858606.1:p.Ile1213Met
XR_002958896.1:n.3759C>G
NM_133259.4:c.3717C>G MANE Select	NP_573566.2:p.Ile1239Met