Canonical Allele Identifier: CA3237834

Gene: CPLANE1

Linked Data

• dbSNP Id: rs764690794
• ExAC: 5:37153933 A / G
• gnomAD v2: 5-37153933-A-G
• gnomAD v4: 5-37153831-A-G
• MyVariant Identifiers: chr5:g.37153933A>G (hg19) ; chr5:g.37153831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153831A>G , CM000667.2:g.37153831A>G	GRCh38
NC_000005.9:g.37153933A>G , CM000667.1:g.37153933A>G	GRCh37
NC_000005.8:g.37189690A>G	NCBI36
NG_032772.1:g.100598T>C
NG_032772.2:g.100598T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1281T>C
ENST00000651892.2:c.8282T>C MANE Select	ENSP00000498265.2:p.Ile2761Thr
ENST00000425232.6:c.8120T>C	ENSP00000389014.2:p.Ile2707Thr
ENST00000508244.5:c.8120T>C	ENSP00000421690.1:p.Ile2707Thr
ENST00000508405.1:n.14T>C
ENST00000509849.5:c.5294T>C	ENSP00000426337.1:p.Ile1765Thr
ENST00000509957.5:n.524T>C
ENST00000511824.2:c.1396T>C
ENST00000514429.5:c.5318T>C	ENSP00000424223.1:p.Ile1773Thr
NM_023073.3:c.8120T>C	NP_075561.3:p.Ile2707Thr
XM_005248345.2:c.8282T>C	XP_005248402.1:p.Ile2761Thr
XM_005248346.2:c.8279T>C	XP_005248403.1:p.Ile2760Thr
XM_005248347.2:c.8279T>C	XP_005248404.1:p.Ile2760Thr
XM_005248349.2:c.8171T>C	XP_005248406.1:p.Ile2724Thr
XM_005248350.2:c.8153T>C	XP_005248407.1:p.Ile2718Thr
XM_005248353.3:c.4925T>C	XP_005248410.1:p.Ile1642Thr
XM_006714489.2:c.8282T>C	XP_006714552.1:p.Ile2761Thr
XM_006714491.2:c.2855T>C	XP_006714554.1:p.Ile952Thr
XM_011514085.1:c.8282T>C	XP_011512387.1:p.Ile2761Thr
XM_011514086.1:c.8282T>C	XP_011512388.1:p.Ile2761Thr
XM_011514087.1:c.8228T>C	XP_011512389.1:p.Ile2743Thr
XM_011514088.1:c.8174T>C	XP_011512390.1:p.Ile2725Thr
XM_011514089.1:c.8282T>C	XP_011512391.1:p.Ile2761Thr
XM_011514090.1:c.7964T>C	XP_011512392.1:p.Ile2655Thr
XM_011514091.1:c.7610T>C	XP_011512393.1:p.Ile2537Thr
XM_011514092.1:c.8282T>C	XP_011512394.1:p.Ile2761Thr
XM_011514094.1:c.5507T>C	XP_011512396.1:p.Ile1836Thr
XR_427661.2:n.8457T>C
XR_925644.1:n.8457T>C
XM_005248345.4:c.8282T>C	XP_005248402.1:p.Ile2761Thr
XM_005248346.4:c.8279T>C	XP_005248403.1:p.Ile2760Thr
XM_005248347.4:c.8279T>C	XP_005248404.1:p.Ile2760Thr
XM_005248349.4:c.8171T>C	XP_005248406.1:p.Ile2724Thr
XM_005248350.4:c.8153T>C	XP_005248407.1:p.Ile2718Thr
XM_006714491.3:c.2855T>C	XP_006714554.1:p.Ile952Thr
XM_011514085.3:c.8282T>C	XP_011512387.1:p.Ile2761Thr
XM_011514086.3:c.8282T>C	XP_011512388.1:p.Ile2761Thr
XM_011514087.2:c.8228T>C	XP_011512389.1:p.Ile2743Thr
XM_011514088.2:c.8174T>C	XP_011512390.1:p.Ile2725Thr
XM_011514089.2:c.8282T>C	XP_011512391.1:p.Ile2761Thr
XM_011514090.3:c.7964T>C	XP_011512392.1:p.Ile2655Thr
XM_011514092.2:c.8282T>C	XP_011512394.1:p.Ile2761Thr
XM_011514094.2:c.5507T>C	XP_011512396.1:p.Ile1836Thr
XM_017009760.1:c.8093T>C	XP_016865249.1:p.Ile2698Thr
XM_017009761.2:c.8093T>C	XP_016865250.1:p.Ile2698Thr
XM_017009763.1:c.7289T>C	XP_016865252.1:p.Ile2430Thr
XM_017009765.1:c.7094T>C	XP_016865254.1:p.Ile2365Thr
XM_017009766.1:c.4925T>C	XP_016865255.1:p.Ile1642Thr
XM_024446183.1:c.8093T>C	XP_024301951.1:p.Ile2698Thr
XM_024446184.1:c.7964T>C	XP_024301952.1:p.Ile2655Thr
XM_024446185.1:c.7610T>C	XP_024301953.1:p.Ile2537Thr
XM_024446186.1:c.7289T>C	XP_024301954.1:p.Ile2430Thr
XR_001742208.1:n.8451T>C
XR_002956171.1:n.8397T>C
XR_925644.2:n.8506T>C
NM_001384732.1:c.8282T>C MANE Select	NP_001371661.1:p.Ile2761Thr
NM_023073.4:c.8120T>C	NP_075561.3:p.Ile2707Thr