Canonical Allele Identifier: CA346676585

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899287-G-A
• MyVariant Identifiers: chr2:g.44126426G>A (hg19) ; chr2:g.43899287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899287G>A , CM000664.2:g.43899287G>A	GRCh38
NC_000002.11:g.44126426G>A , CM000664.1:g.44126426G>A	GRCh37
NC_000002.10:g.43979930G>A	NCBI36
NG_008247.1:g.101719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.188C>T
ENST00000472420.6:n.836C>T
ENST00000483489.2:n.188C>T
ENST00000681993.1:n.1309C>T
ENST00000682303.1:c.*3543C>T	ENSP00000508325.1:n.*3543C>T
ENST00000682308.1:c.3757C>T	ENSP00000507056.1:p.Pro1253Ser
ENST00000682434.1:n.1308C>T
ENST00000682480.1:c.3775C>T	ENSP00000508344.1:p.Pro1259Ser
ENST00000682546.1:c.3754C>T	ENSP00000508188.1:p.Pro1252Ser
ENST00000682585.1:c.3757C>T	ENSP00000506885.1:p.Pro1253Ser
ENST00000682595.1:n.4341C>T
ENST00000682607.1:c.2175C>T
ENST00000682612.1:c.609C>T
ENST00000682779.1:c.3748C>T	ENSP00000507947.1:p.Pro1250Ser
ENST00000682845.1:n.2859C>T
ENST00000682885.1:c.3712C>T	ENSP00000508036.1:p.Pro1238Ser
ENST00000682933.1:n.3831C>T
ENST00000683002.1:c.609C>T
ENST00000683072.1:n.4341C>T
ENST00000683080.1:n.1376C>T
ENST00000683125.1:c.3865C>T	ENSP00000507939.1:p.Pro1289Ser
ENST00000683213.1:c.3760C>T	ENSP00000507751.1:p.Pro1254Ser
ENST00000683220.1:c.3787C>T	ENSP00000507151.1:p.Pro1263Ser
ENST00000683329.1:n.4560C>T
ENST00000683346.1:c.*3632C>T	ENSP00000507458.1:n.*3632C>T
ENST00000683409.1:n.2364C>T
ENST00000683459.1:n.4344C>T
ENST00000683528.1:c.685C>T
ENST00000683590.1:c.3505C>T	ENSP00000506820.1:p.Pro1169Ser
ENST00000683623.1:c.3664C>T	ENSP00000507702.1:p.Pro1222Ser
ENST00000683645.1:n.4308C>T
ENST00000683796.1:c.*3629C>T	ENSP00000508221.1:n.*3629C>T
ENST00000683802.1:n.6682C>T
ENST00000683833.1:c.3748C>T	ENSP00000506852.1:p.Pro1250Ser
ENST00000683994.1:c.3757C>T	ENSP00000507181.1:p.Pro1253Ser
ENST00000684290.1:c.*1293C>T	ENSP00000507243.1:n.*1293C>T
ENST00000684306.1:c.*3670C>T	ENSP00000508384.1:n.*3670C>T
ENST00000684341.1:n.3777C>T
ENST00000684383.1:c.*3395C>T	ENSP00000506863.1:n.*3395C>T
ENST00000684418.1:n.4938C>T
ENST00000684433.1:n.141C>T
ENST00000684454.1:n.3107C>T
ENST00000684619.1:c.*3629C>T	ENSP00000508088.1:n.*3629C>T
ENST00000684743.1:n.6502C>T
ENST00000260665.12:c.3757C>T MANE Select	ENSP00000260665.7:p.Pro1253Ser
ENST00000260665.11:c.3757C>T	ENSP00000260665.7:p.Pro1253Ser
ENST00000463456.5:n.2800C>T
ENST00000472420.5:n.154C>T
ENST00000483489.1:n.231C>T
NM_133259.3:c.3757C>T	NP_573566.2:p.Pro1253Ser
XM_006711915.2:c.3679C>T	XP_006711978.1:p.Pro1227Ser
XM_011532473.1:c.3757C>T	XP_011530775.1:p.Pro1253Ser
XM_011532474.1:c.3757C>T	XP_011530776.1:p.Pro1253Ser
XM_017003117.1:c.3679C>T	XP_016858606.1:p.Pro1227Ser
XR_002958896.1:n.3799C>T
NM_133259.4:c.3757C>T MANE Select	NP_573566.2:p.Pro1253Ser