Canonical Allele Identifier: CA359499969

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37125402-G-T
• MyVariant Identifiers: chr5:g.37125504G>T (hg19) ; chr5:g.37125402G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125402G>T , CM000667.2:g.37125402G>T	GRCh38
NC_000005.9:g.37125504G>T , CM000667.1:g.37125504G>T	GRCh37
NC_000005.8:g.37161261G>T	NCBI36
NG_032772.1:g.129027C>A
NG_032772.2:g.129027C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1799C>A
ENST00000651892.2:c.8800C>A MANE Select	ENSP00000498265.2:p.His2934Asn
ENST00000676160.1:n.661C>A
ENST00000425232.6:c.8638C>A	ENSP00000389014.2:p.His2880Asn
ENST00000508244.5:c.8638C>A	ENSP00000421690.1:p.His2880Asn
ENST00000509849.5:c.5812C>A	ENSP00000426337.1:n.5812C>A
ENST00000509957.5:n.3981C>A
ENST00000512288.5:n.342-3618C>A
ENST00000514429.5:c.5836C>A	ENSP00000424223.1:p.His1946Asn
NM_023073.3:c.8638C>A	NP_075561.3:p.His2880Asn
XM_005248345.2:c.8800C>A	XP_005248402.1:p.His2934Asn
XM_005248346.2:c.8797C>A	XP_005248403.1:p.His2933Asn
XM_005248347.2:c.8797C>A	XP_005248404.1:p.His2933Asn
XM_005248349.2:c.8689C>A	XP_005248406.1:p.His2897Asn
XM_005248350.2:c.8671C>A	XP_005248407.1:p.His2891Asn
XM_005248353.3:c.5443C>A	XP_005248410.1:p.His1815Asn
XM_006714489.2:c.8800C>A	XP_006714552.1:p.His2934Asn
XM_006714491.2:c.3373C>A	XP_006714554.1:p.His1125Asn
XM_011514085.1:c.8800C>A	XP_011512387.1:p.His2934Asn
XM_011514086.1:c.8800C>A	XP_011512388.1:p.His2934Asn
XM_011514087.1:c.8746C>A	XP_011512389.1:p.His2916Asn
XM_011514088.1:c.8692C>A	XP_011512390.1:p.His2898Asn
XM_011514089.1:c.8800C>A	XP_011512391.1:p.His2934Asn
XM_011514090.1:c.8482C>A	XP_011512392.1:p.His2828Asn
XM_011514091.1:c.8128C>A	XP_011512393.1:p.His2710Asn
XM_011514092.1:c.8800C>A	XP_011512394.1:p.His2934Asn
XM_011514094.1:c.6025C>A	XP_011512396.1:p.His2009Asn
XR_427661.2:n.8975C>A
XR_925644.1:n.8975C>A
XM_005248345.4:c.8800C>A	XP_005248402.1:p.His2934Asn
XM_005248346.4:c.8797C>A	XP_005248403.1:p.His2933Asn
XM_005248347.4:c.8797C>A	XP_005248404.1:p.His2933Asn
XM_005248349.4:c.8689C>A	XP_005248406.1:p.His2897Asn
XM_005248350.4:c.8671C>A	XP_005248407.1:p.His2891Asn
XM_006714491.3:c.3373C>A	XP_006714554.1:p.His1125Asn
XM_011514085.3:c.8800C>A	XP_011512387.1:p.His2934Asn
XM_011514086.3:c.8800C>A	XP_011512388.1:p.His2934Asn
XM_011514087.2:c.8746C>A	XP_011512389.1:p.His2916Asn
XM_011514088.2:c.8692C>A	XP_011512390.1:p.His2898Asn
XM_011514089.2:c.8800C>A	XP_011512391.1:p.His2934Asn
XM_011514090.3:c.8482C>A	XP_011512392.1:p.His2828Asn
XM_011514092.2:c.8800C>A	XP_011512394.1:p.His2934Asn
XM_011514094.2:c.6025C>A	XP_011512396.1:p.His2009Asn
XM_017009760.1:c.8611C>A	XP_016865249.1:p.His2871Asn
XM_017009761.2:c.8611C>A	XP_016865250.1:p.His2871Asn
XM_017009763.1:c.7807C>A	XP_016865252.1:p.His2603Asn
XM_017009765.1:c.7612C>A	XP_016865254.1:p.His2538Asn
XM_017009766.1:c.5443C>A	XP_016865255.1:p.His1815Asn
XM_024446183.1:c.8611C>A	XP_024301951.1:p.His2871Asn
XM_024446184.1:c.8482C>A	XP_024301952.1:p.His2828Asn
XM_024446185.1:c.8128C>A	XP_024301953.1:p.His2710Asn
XM_024446186.1:c.7807C>A	XP_024301954.1:p.His2603Asn
XR_001742208.1:n.8969C>A
XR_925644.2:n.9024C>A
NM_001384732.1:c.8800C>A MANE Select	NP_001371661.1:p.His2934Asn
NM_023073.4:c.8638C>A	NP_075561.3:p.His2880Asn