Canonical Allele Identifier: CA359496650

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37122545G>T (hg19) ; chr5:g.37122443G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122443G>T , CM000667.2:g.37122443G>T	GRCh38
NC_000005.9:g.37122545G>T , CM000667.1:g.37122545G>T	GRCh37
NC_000005.8:g.37158302G>T	NCBI36
NG_032772.1:g.131986C>A
NG_032772.2:g.131986C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.9004C>A MANE Select	ENSP00000498265.2:p.His3002Asn
ENST00000676160.1:n.865C>A
ENST00000425232.6:c.8842C>A	ENSP00000389014.2:p.His2948Asn
ENST00000508244.5:c.8842C>A	ENSP00000421690.1:p.His2948Asn
ENST00000509849.5:c.6016C>A	ENSP00000426337.1:n.6016C>A
ENST00000512288.5:n.342-659C>A
ENST00000514429.5:c.6040C>A	ENSP00000424223.1:p.His2014Asn
NM_023073.3:c.8842C>A	NP_075561.3:p.His2948Asn
XM_005248345.2:c.9004C>A	XP_005248402.1:p.His3002Asn
XM_005248346.2:c.9001C>A	XP_005248403.1:p.His3001Asn
XM_005248347.2:c.9001C>A	XP_005248404.1:p.His3001Asn
XM_005248349.2:c.8893C>A	XP_005248406.1:p.His2965Asn
XM_005248350.2:c.8875C>A	XP_005248407.1:p.His2959Asn
XM_005248353.3:c.5647C>A	XP_005248410.1:p.His1883Asn
XM_006714489.2:c.9004C>A	XP_006714552.1:p.His3002Asn
XM_006714491.2:c.3577C>A	XP_006714554.1:p.His1193Asn
XM_011514085.1:c.9004C>A	XP_011512387.1:p.His3002Asn
XM_011514086.1:c.9004C>A	XP_011512388.1:p.His3002Asn
XM_011514087.1:c.8950C>A	XP_011512389.1:p.His2984Asn
XM_011514088.1:c.8896C>A	XP_011512390.1:p.His2966Asn
XM_011514089.1:c.9004C>A	XP_011512391.1:p.His3002Asn
XM_011514090.1:c.8686C>A	XP_011512392.1:p.His2896Asn
XM_011514091.1:c.8332C>A	XP_011512393.1:p.His2778Asn
XM_011514092.1:c.9004C>A	XP_011512394.1:p.His3002Asn
XM_011514094.1:c.6229C>A	XP_011512396.1:p.His2077Asn
XR_427661.2:n.9179C>A
XR_925644.1:n.9179C>A
XM_005248345.4:c.9004C>A	XP_005248402.1:p.His3002Asn
XM_005248346.4:c.9001C>A	XP_005248403.1:p.His3001Asn
XM_005248347.4:c.9001C>A	XP_005248404.1:p.His3001Asn
XM_005248349.4:c.8893C>A	XP_005248406.1:p.His2965Asn
XM_005248350.4:c.8875C>A	XP_005248407.1:p.His2959Asn
XM_006714491.3:c.3577C>A	XP_006714554.1:p.His1193Asn
XM_011514085.3:c.9004C>A	XP_011512387.1:p.His3002Asn
XM_011514086.3:c.9004C>A	XP_011512388.1:p.His3002Asn
XM_011514087.2:c.8950C>A	XP_011512389.1:p.His2984Asn
XM_011514088.2:c.8896C>A	XP_011512390.1:p.His2966Asn
XM_011514089.2:c.9004C>A	XP_011512391.1:p.His3002Asn
XM_011514090.3:c.8686C>A	XP_011512392.1:p.His2896Asn
XM_011514092.2:c.9004C>A	XP_011512394.1:p.His3002Asn
XM_011514094.2:c.6229C>A	XP_011512396.1:p.His2077Asn
XM_017009760.1:c.8815C>A	XP_016865249.1:p.His2939Asn
XM_017009761.2:c.8815C>A	XP_016865250.1:p.His2939Asn
XM_017009763.1:c.8011C>A	XP_016865252.1:p.His2671Asn
XM_017009765.1:c.7816C>A	XP_016865254.1:p.His2606Asn
XM_017009766.1:c.5647C>A	XP_016865255.1:p.His1883Asn
XM_024446183.1:c.8815C>A	XP_024301951.1:p.His2939Asn
XM_024446184.1:c.8686C>A	XP_024301952.1:p.His2896Asn
XM_024446185.1:c.8332C>A	XP_024301953.1:p.His2778Asn
XM_024446186.1:c.8011C>A	XP_024301954.1:p.His2671Asn
XR_925644.2:n.9228C>A
NM_001384732.1:c.9004C>A MANE Select	NP_001371661.1:p.His3002Asn
NM_023073.4:c.8842C>A	NP_075561.3:p.His2948Asn