Canonical Allele Identifier: CA359498320

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37125350T>G (hg19) ; chr5:g.37125248T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125248T>G , CM000667.2:g.37125248T>G	GRCh38
NC_000005.9:g.37125350T>G , CM000667.1:g.37125350T>G	GRCh37
NC_000005.8:g.37161107T>G	NCBI36
NG_032772.1:g.129181A>C
NG_032772.2:g.129181A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1953A>C
ENST00000651892.2:c.8954A>C MANE Select	ENSP00000498265.2:p.Asn2985Thr
ENST00000676160.1:n.815A>C
ENST00000425232.6:c.8792A>C	ENSP00000389014.2:p.Asn2931Thr
ENST00000508244.5:c.8792A>C	ENSP00000421690.1:p.Asn2931Thr
ENST00000509849.5:c.5966A>C	ENSP00000426337.1:n.5966A>C
ENST00000509957.5:n.4135A>C
ENST00000512288.5:n.342-3464A>C
ENST00000514429.5:c.5990A>C	ENSP00000424223.1:p.Asn1997Thr
NM_023073.3:c.8792A>C	NP_075561.3:p.Asn2931Thr
XM_005248345.2:c.8954A>C	XP_005248402.1:p.Asn2985Thr
XM_005248346.2:c.8951A>C	XP_005248403.1:p.Asn2984Thr
XM_005248347.2:c.8951A>C	XP_005248404.1:p.Asn2984Thr
XM_005248349.2:c.8843A>C	XP_005248406.1:p.Asn2948Thr
XM_005248350.2:c.8825A>C	XP_005248407.1:p.Asn2942Thr
XM_005248353.3:c.5597A>C	XP_005248410.1:p.Asn1866Thr
XM_006714489.2:c.8954A>C	XP_006714552.1:p.Asn2985Thr
XM_006714491.2:c.3527A>C	XP_006714554.1:p.Asn1176Thr
XM_011514085.1:c.8954A>C	XP_011512387.1:p.Asn2985Thr
XM_011514086.1:c.8954A>C	XP_011512388.1:p.Asn2985Thr
XM_011514087.1:c.8900A>C	XP_011512389.1:p.Asn2967Thr
XM_011514088.1:c.8846A>C	XP_011512390.1:p.Asn2949Thr
XM_011514089.1:c.8954A>C	XP_011512391.1:p.Asn2985Thr
XM_011514090.1:c.8636A>C	XP_011512392.1:p.Asn2879Thr
XM_011514091.1:c.8282A>C	XP_011512393.1:p.Asn2761Thr
XM_011514092.1:c.8954A>C	XP_011512394.1:p.Asn2985Thr
XM_011514094.1:c.6179A>C	XP_011512396.1:p.Asn2060Thr
XR_427661.2:n.9129A>C
XR_925644.1:n.9129A>C
XM_005248345.4:c.8954A>C	XP_005248402.1:p.Asn2985Thr
XM_005248346.4:c.8951A>C	XP_005248403.1:p.Asn2984Thr
XM_005248347.4:c.8951A>C	XP_005248404.1:p.Asn2984Thr
XM_005248349.4:c.8843A>C	XP_005248406.1:p.Asn2948Thr
XM_005248350.4:c.8825A>C	XP_005248407.1:p.Asn2942Thr
XM_006714491.3:c.3527A>C	XP_006714554.1:p.Asn1176Thr
XM_011514085.3:c.8954A>C	XP_011512387.1:p.Asn2985Thr
XM_011514086.3:c.8954A>C	XP_011512388.1:p.Asn2985Thr
XM_011514087.2:c.8900A>C	XP_011512389.1:p.Asn2967Thr
XM_011514088.2:c.8846A>C	XP_011512390.1:p.Asn2949Thr
XM_011514089.2:c.8954A>C	XP_011512391.1:p.Asn2985Thr
XM_011514090.3:c.8636A>C	XP_011512392.1:p.Asn2879Thr
XM_011514092.2:c.8954A>C	XP_011512394.1:p.Asn2985Thr
XM_011514094.2:c.6179A>C	XP_011512396.1:p.Asn2060Thr
XM_017009760.1:c.8765A>C	XP_016865249.1:p.Asn2922Thr
XM_017009761.2:c.8765A>C	XP_016865250.1:p.Asn2922Thr
XM_017009763.1:c.7961A>C	XP_016865252.1:p.Asn2654Thr
XM_017009765.1:c.7766A>C	XP_016865254.1:p.Asn2589Thr
XM_017009766.1:c.5597A>C	XP_016865255.1:p.Asn1866Thr
XM_024446183.1:c.8765A>C	XP_024301951.1:p.Asn2922Thr
XM_024446184.1:c.8636A>C	XP_024301952.1:p.Asn2879Thr
XM_024446185.1:c.8282A>C	XP_024301953.1:p.Asn2761Thr
XM_024446186.1:c.7961A>C	XP_024301954.1:p.Asn2654Thr
XR_925644.2:n.9178A>C
NM_001384732.1:c.8954A>C MANE Select	NP_001371661.1:p.Asn2985Thr
NM_023073.4:c.8792A>C	NP_075561.3:p.Asn2931Thr