Canonical Allele Identifier: CA359499385

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37125452T>G (hg19) ; chr5:g.37125350T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125350T>G , CM000667.2:g.37125350T>G	GRCh38
NC_000005.9:g.37125452T>G , CM000667.1:g.37125452T>G	GRCh37
NC_000005.8:g.37161209T>G	NCBI36
NG_032772.1:g.129079A>C
NG_032772.2:g.129079A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1851A>C
ENST00000651892.2:c.8852A>C MANE Select	ENSP00000498265.2:p.Gln2951Pro
ENST00000676160.1:n.713A>C
ENST00000425232.6:c.8690A>C	ENSP00000389014.2:p.Gln2897Pro
ENST00000508244.5:c.8690A>C	ENSP00000421690.1:p.Gln2897Pro
ENST00000509849.5:c.5864A>C	ENSP00000426337.1:n.5864A>C
ENST00000509957.5:n.4033A>C
ENST00000512288.5:n.342-3566A>C
ENST00000514429.5:c.5888A>C	ENSP00000424223.1:p.Gln1963Pro
NM_023073.3:c.8690A>C	NP_075561.3:p.Gln2897Pro
XM_005248345.2:c.8852A>C	XP_005248402.1:p.Gln2951Pro
XM_005248346.2:c.8849A>C	XP_005248403.1:p.Gln2950Pro
XM_005248347.2:c.8849A>C	XP_005248404.1:p.Gln2950Pro
XM_005248349.2:c.8741A>C	XP_005248406.1:p.Gln2914Pro
XM_005248350.2:c.8723A>C	XP_005248407.1:p.Gln2908Pro
XM_005248353.3:c.5495A>C	XP_005248410.1:p.Gln1832Pro
XM_006714489.2:c.8852A>C	XP_006714552.1:p.Gln2951Pro
XM_006714491.2:c.3425A>C	XP_006714554.1:p.Gln1142Pro
XM_011514085.1:c.8852A>C	XP_011512387.1:p.Gln2951Pro
XM_011514086.1:c.8852A>C	XP_011512388.1:p.Gln2951Pro
XM_011514087.1:c.8798A>C	XP_011512389.1:p.Gln2933Pro
XM_011514088.1:c.8744A>C	XP_011512390.1:p.Gln2915Pro
XM_011514089.1:c.8852A>C	XP_011512391.1:p.Gln2951Pro
XM_011514090.1:c.8534A>C	XP_011512392.1:p.Gln2845Pro
XM_011514091.1:c.8180A>C	XP_011512393.1:p.Gln2727Pro
XM_011514092.1:c.8852A>C	XP_011512394.1:p.Gln2951Pro
XM_011514094.1:c.6077A>C	XP_011512396.1:p.Gln2026Pro
XR_427661.2:n.9027A>C
XR_925644.1:n.9027A>C
XM_005248345.4:c.8852A>C	XP_005248402.1:p.Gln2951Pro
XM_005248346.4:c.8849A>C	XP_005248403.1:p.Gln2950Pro
XM_005248347.4:c.8849A>C	XP_005248404.1:p.Gln2950Pro
XM_005248349.4:c.8741A>C	XP_005248406.1:p.Gln2914Pro
XM_005248350.4:c.8723A>C	XP_005248407.1:p.Gln2908Pro
XM_006714491.3:c.3425A>C	XP_006714554.1:p.Gln1142Pro
XM_011514085.3:c.8852A>C	XP_011512387.1:p.Gln2951Pro
XM_011514086.3:c.8852A>C	XP_011512388.1:p.Gln2951Pro
XM_011514087.2:c.8798A>C	XP_011512389.1:p.Gln2933Pro
XM_011514088.2:c.8744A>C	XP_011512390.1:p.Gln2915Pro
XM_011514089.2:c.8852A>C	XP_011512391.1:p.Gln2951Pro
XM_011514090.3:c.8534A>C	XP_011512392.1:p.Gln2845Pro
XM_011514092.2:c.8852A>C	XP_011512394.1:p.Gln2951Pro
XM_011514094.2:c.6077A>C	XP_011512396.1:p.Gln2026Pro
XM_017009760.1:c.8663A>C	XP_016865249.1:p.Gln2888Pro
XM_017009761.2:c.8663A>C	XP_016865250.1:p.Gln2888Pro
XM_017009763.1:c.7859A>C	XP_016865252.1:p.Gln2620Pro
XM_017009765.1:c.7664A>C	XP_016865254.1:p.Gln2555Pro
XM_017009766.1:c.5495A>C	XP_016865255.1:p.Gln1832Pro
XM_024446183.1:c.8663A>C	XP_024301951.1:p.Gln2888Pro
XM_024446184.1:c.8534A>C	XP_024301952.1:p.Gln2845Pro
XM_024446185.1:c.8180A>C	XP_024301953.1:p.Gln2727Pro
XM_024446186.1:c.7859A>C	XP_024301954.1:p.Gln2620Pro
XR_001742208.1:n.9021A>C
XR_925644.2:n.9076A>C
NM_001384732.1:c.8852A>C MANE Select	NP_001371661.1:p.Gln2951Pro
NM_023073.4:c.8690A>C	NP_075561.3:p.Gln2897Pro