Canonical Allele Identifier: CA346676756

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126467A>C (hg19) ; chr2:g.43899328A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899328A>C , CM000664.2:g.43899328A>C	GRCh38
NC_000002.11:g.44126467A>C , CM000664.1:g.44126467A>C	GRCh37
NC_000002.10:g.43979971A>C	NCBI36
NG_008247.1:g.101678T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.147T>G
ENST00000472420.6:n.795T>G
ENST00000483489.2:n.147T>G
ENST00000681993.1:n.1268T>G
ENST00000682303.1:c.*3502T>G	ENSP00000508325.1:n.*3502T>G
ENST00000682308.1:c.3716T>G	ENSP00000507056.1:p.Ile1239Ser
ENST00000682434.1:n.1267T>G
ENST00000682480.1:c.3734T>G	ENSP00000508344.1:p.Ile1245Ser
ENST00000682546.1:c.3713T>G	ENSP00000508188.1:p.Ile1238Ser
ENST00000682585.1:c.3716T>G	ENSP00000506885.1:p.Ile1239Ser
ENST00000682595.1:n.4300T>G
ENST00000682607.1:c.2134T>G
ENST00000682612.1:c.568T>G
ENST00000682779.1:c.3707T>G	ENSP00000507947.1:p.Ile1236Ser
ENST00000682845.1:n.2818T>G
ENST00000682885.1:c.3671T>G	ENSP00000508036.1:p.Ile1224Ser
ENST00000682933.1:n.3790T>G
ENST00000683002.1:c.568T>G
ENST00000683072.1:n.4300T>G
ENST00000683080.1:n.1335T>G
ENST00000683125.1:c.3824T>G	ENSP00000507939.1:p.Ile1275Ser
ENST00000683213.1:c.3719T>G	ENSP00000507751.1:p.Ile1240Ser
ENST00000683220.1:c.3746T>G	ENSP00000507151.1:p.Ile1249Ser
ENST00000683329.1:n.4519T>G
ENST00000683346.1:c.*3591T>G	ENSP00000507458.1:n.*3591T>G
ENST00000683409.1:n.2323T>G
ENST00000683459.1:n.4303T>G
ENST00000683528.1:c.644T>G
ENST00000683590.1:c.3464T>G	ENSP00000506820.1:p.Ile1155Ser
ENST00000683623.1:c.3623T>G	ENSP00000507702.1:p.Ile1208Ser
ENST00000683645.1:n.4267T>G
ENST00000683796.1:c.*3588T>G	ENSP00000508221.1:n.*3588T>G
ENST00000683802.1:n.6641T>G
ENST00000683833.1:c.3707T>G	ENSP00000506852.1:p.Ile1236Ser
ENST00000683994.1:c.3716T>G	ENSP00000507181.1:p.Ile1239Ser
ENST00000684290.1:c.*1252T>G	ENSP00000507243.1:n.*1252T>G
ENST00000684306.1:c.*3629T>G	ENSP00000508384.1:n.*3629T>G
ENST00000684341.1:n.3736T>G
ENST00000684383.1:c.*3354T>G	ENSP00000506863.1:n.*3354T>G
ENST00000684418.1:n.4897T>G
ENST00000684433.1:n.100T>G
ENST00000684454.1:n.3066T>G
ENST00000684619.1:c.*3588T>G	ENSP00000508088.1:n.*3588T>G
ENST00000684743.1:n.6461T>G
ENST00000260665.12:c.3716T>G MANE Select	ENSP00000260665.7:p.Ile1239Ser
ENST00000260665.11:c.3716T>G	ENSP00000260665.7:p.Ile1239Ser
ENST00000463456.5:n.2759T>G
ENST00000472420.5:n.113T>G
ENST00000483489.1:n.190T>G
NM_133259.3:c.3716T>G	NP_573566.2:p.Ile1239Ser
XM_006711915.2:c.3638T>G	XP_006711978.1:p.Ile1213Ser
XM_011532473.1:c.3716T>G	XP_011530775.1:p.Ile1239Ser
XM_011532474.1:c.3716T>G	XP_011530776.1:p.Ile1239Ser
XM_017003117.1:c.3638T>G	XP_016858606.1:p.Ile1213Ser
XR_002958896.1:n.3758T>G
NM_133259.4:c.3716T>G MANE Select	NP_573566.2:p.Ile1239Ser