Canonical Allele Identifier: CA346674324

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43945407-C-A
• MyVariant Identifiers: chr2:g.44172546C>A (hg19) ; chr2:g.43945407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43945407C>A , CM000664.2:g.43945407C>A	GRCh38
NC_000002.11:g.44172546C>A , CM000664.1:g.44172546C>A	GRCh37
NC_000002.10:g.44026050C>A	NCBI36
NG_008247.1:g.55599G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2221G>T	ENSP00000386562.2:p.Asp741Tyr
ENST00000447246.2:c.2221G>T	ENSP00000403637.2:p.Asp741Tyr
ENST00000681961.1:n.2241G>T
ENST00000682104.1:c.2095G>T	ENSP00000507716.1:p.Asp699Tyr
ENST00000682303.1:c.*2082+706G>T	ENSP00000508325.1:n.*2082+706G>T
ENST00000682308.1:c.2221G>T	ENSP00000507056.1:p.Asp741Tyr
ENST00000682480.1:c.2221G>T	ENSP00000508344.1:p.Asp741Tyr
ENST00000682546.1:c.2218G>T	ENSP00000508188.1:p.Asp740Tyr
ENST00000682585.1:c.2221G>T	ENSP00000506885.1:p.Asp741Tyr
ENST00000682595.1:n.2803G>T
ENST00000682607.1:c.639G>T
ENST00000682779.1:c.2212G>T	ENSP00000507947.1:p.Asp738Tyr
ENST00000682885.1:c.2176G>T	ENSP00000508036.1:p.Asp726Tyr
ENST00000682933.1:n.2295G>T
ENST00000683072.1:n.2803G>T
ENST00000683125.1:c.2221G>T	ENSP00000507939.1:p.Asp741Tyr
ENST00000683213.1:c.2224G>T	ENSP00000507751.1:p.Asp742Tyr
ENST00000683220.1:c.2251G>T	ENSP00000507151.1:p.Asp751Tyr
ENST00000683329.1:n.3024G>T
ENST00000683346.1:c.*2096G>T	ENSP00000507458.1:n.*2096G>T
ENST00000683459.1:n.2808G>T
ENST00000683590.1:c.2221G>T	ENSP00000506820.1:p.Asp741Tyr
ENST00000683623.1:c.2221G>T	ENSP00000507702.1:p.Asp741Tyr
ENST00000683645.1:n.2772G>T
ENST00000683694.1:n.972G>T
ENST00000683796.1:c.*2093G>T	ENSP00000508221.1:n.*2093G>T
ENST00000683802.1:n.5146G>T
ENST00000683833.1:c.2212G>T	ENSP00000506852.1:p.Asp738Tyr
ENST00000683934.1:c.2107G>T
ENST00000683989.1:c.2221G>T	ENSP00000507510.1:p.Asp741Tyr
ENST00000683994.1:c.2221G>T	ENSP00000507181.1:p.Asp741Tyr
ENST00000684290.1:c.2210+706G>T	ENSP00000507243.1:n.2210+706G>T
ENST00000684306.1:c.*2134G>T	ENSP00000508384.1:n.*2134G>T
ENST00000684341.1:n.2241G>T
ENST00000684383.1:c.*1859G>T	ENSP00000506863.1:n.*1859G>T
ENST00000684619.1:c.*2093G>T	ENSP00000508088.1:n.*2093G>T
ENST00000684743.1:n.3252G>T
ENST00000260665.12:c.2221G>T MANE Select	ENSP00000260665.7:p.Asp741Tyr
ENST00000260665.11:c.2221G>T	ENSP00000260665.7:p.Asp741Tyr
NM_133259.3:c.2221G>T	NP_573566.2:p.Asp741Tyr
XM_006711915.2:c.2143G>T	XP_006711978.1:p.Asp715Tyr
XM_006711916.2:c.2221G>T	XP_006711979.1:p.Asp741Tyr
XM_011532473.1:c.2221G>T	XP_011530775.1:p.Asp741Tyr
XM_011532474.1:c.2221G>T	XP_011530776.1:p.Asp741Tyr
XM_006711916.3:c.2221G>T	XP_006711979.1:p.Asp741Tyr
XM_017003117.1:c.2143G>T	XP_016858606.1:p.Asp715Tyr
XR_002958896.1:n.2263G>T
NM_133259.4:c.2221G>T MANE Select	NP_573566.2:p.Asp741Tyr