Canonical Allele Identifier: CA346668562

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918341-T-C
• MyVariant Identifiers: chr2:g.44145480T>C (hg19) ; chr2:g.43918341T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918341T>C , CM000664.2:g.43918341T>C	GRCh38
NC_000002.11:g.44145480T>C , CM000664.1:g.44145480T>C	GRCh37
NC_000002.10:g.43998984T>C	NCBI36
NG_008247.1:g.82665A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681993.1:n.506A>G
ENST00000682295.1:c.218A>G	ENSP00000507499.1:p.Asn73Ser
ENST00000682303.1:c.*2740A>G	ENSP00000508325.1:n.*2740A>G
ENST00000682308.1:c.2954A>G	ENSP00000507056.1:p.Asn985Ser
ENST00000682480.1:c.2954A>G	ENSP00000508344.1:p.Asn985Ser
ENST00000682546.1:c.2951A>G	ENSP00000508188.1:p.Asn984Ser
ENST00000682585.1:c.2954A>G	ENSP00000506885.1:p.Asn985Ser
ENST00000682595.1:n.3538A>G
ENST00000682607.1:c.1372A>G
ENST00000682779.1:c.2945A>G	ENSP00000507947.1:p.Asn982Ser
ENST00000682845.1:n.2056A>G
ENST00000682885.1:c.2909A>G	ENSP00000508036.1:p.Asn970Ser
ENST00000682933.1:n.3028A>G
ENST00000683072.1:n.3538A>G
ENST00000683080.1:n.573A>G
ENST00000683125.1:c.3062A>G	ENSP00000507939.1:p.Asn1021Ser
ENST00000683213.1:c.2957A>G	ENSP00000507751.1:p.Asn986Ser
ENST00000683220.1:c.2984A>G	ENSP00000507151.1:p.Asn995Ser
ENST00000683236.1:c.284A>G	ENSP00000506891.1:n.284A>G
ENST00000683329.1:n.3757A>G
ENST00000683346.1:c.*2829A>G	ENSP00000507458.1:n.*2829A>G
ENST00000683409.1:n.1561A>G
ENST00000683459.1:n.3541A>G
ENST00000683590.1:c.2897-5783A>G	ENSP00000506820.1:n.2897-5783A>G
ENST00000683623.1:c.2861A>G	ENSP00000507702.1:p.Asn954Ser
ENST00000683645.1:n.3505A>G
ENST00000683796.1:c.*2826A>G	ENSP00000508221.1:n.*2826A>G
ENST00000683802.1:n.5879A>G
ENST00000683833.1:c.2945A>G	ENSP00000506852.1:p.Asn982Ser
ENST00000683994.1:c.2954A>G	ENSP00000507181.1:p.Asn985Ser
ENST00000684290.1:c.*490A>G	ENSP00000507243.1:n.*490A>G
ENST00000684306.1:c.*2867A>G	ENSP00000508384.1:n.*2867A>G
ENST00000684341.1:n.2974A>G
ENST00000684383.1:c.*2592A>G	ENSP00000506863.1:n.*2592A>G
ENST00000684619.1:c.*2826A>G	ENSP00000508088.1:n.*2826A>G
ENST00000684705.1:n.75A>G
ENST00000684743.1:n.3985A>G
ENST00000260665.12:c.2954A>G MANE Select	ENSP00000260665.7:p.Asn985Ser
ENST00000260665.11:c.2954A>G	ENSP00000260665.7:p.Asn985Ser
NM_133259.3:c.2954A>G	NP_573566.2:p.Asn985Ser
XM_006711915.2:c.2876A>G	XP_006711978.1:p.Asn959Ser
XM_006711916.2:c.2954A>G	XP_006711979.1:p.Asn985Ser
XM_011532473.1:c.2954A>G	XP_011530775.1:p.Asn985Ser
XM_011532474.1:c.2954A>G	XP_011530776.1:p.Asn985Ser
XM_006711916.3:c.2954A>G	XP_006711979.1:p.Asn985Ser
XM_017003117.1:c.2876A>G	XP_016858606.1:p.Asn959Ser
XR_002958896.1:n.2996A>G
NM_133259.4:c.2954A>G MANE Select	NP_573566.2:p.Asn985Ser