Canonical Allele Identifier: CA359473874

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37153936T>G (hg19) ; chr5:g.37153834T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153834T>G , CM000667.2:g.37153834T>G	GRCh38
NC_000005.9:g.37153936T>G , CM000667.1:g.37153936T>G	GRCh37
NC_000005.8:g.37189693T>G	NCBI36
NG_032772.1:g.100595A>C
NG_032772.2:g.100595A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1278A>C
ENST00000651892.2:c.8279A>C MANE Select	ENSP00000498265.2:p.Lys2760Thr
ENST00000425232.6:c.8117A>C	ENSP00000389014.2:p.Lys2706Thr
ENST00000508244.5:c.8117A>C	ENSP00000421690.1:p.Lys2706Thr
ENST00000508405.1:n.11A>C
ENST00000509849.5:c.5291A>C	ENSP00000426337.1:p.Lys1764Thr
ENST00000509957.5:n.521A>C
ENST00000511824.2:c.1393A>C
ENST00000514429.5:c.5315A>C	ENSP00000424223.1:p.Lys1772Thr
NM_023073.3:c.8117A>C	NP_075561.3:p.Lys2706Thr
XM_005248345.2:c.8279A>C	XP_005248402.1:p.Lys2760Thr
XM_005248346.2:c.8276A>C	XP_005248403.1:p.Lys2759Thr
XM_005248347.2:c.8276A>C	XP_005248404.1:p.Lys2759Thr
XM_005248349.2:c.8168A>C	XP_005248406.1:p.Lys2723Thr
XM_005248350.2:c.8150A>C	XP_005248407.1:p.Lys2717Thr
XM_005248353.3:c.4922A>C	XP_005248410.1:p.Lys1641Thr
XM_006714489.2:c.8279A>C	XP_006714552.1:p.Lys2760Thr
XM_006714491.2:c.2852A>C	XP_006714554.1:p.Lys951Thr
XM_011514085.1:c.8279A>C	XP_011512387.1:p.Lys2760Thr
XM_011514086.1:c.8279A>C	XP_011512388.1:p.Lys2760Thr
XM_011514087.1:c.8225A>C	XP_011512389.1:p.Lys2742Thr
XM_011514088.1:c.8171A>C	XP_011512390.1:p.Lys2724Thr
XM_011514089.1:c.8279A>C	XP_011512391.1:p.Lys2760Thr
XM_011514090.1:c.7961A>C	XP_011512392.1:p.Lys2654Thr
XM_011514091.1:c.7607A>C	XP_011512393.1:p.Lys2536Thr
XM_011514092.1:c.8279A>C	XP_011512394.1:p.Lys2760Thr
XM_011514094.1:c.5504A>C	XP_011512396.1:p.Lys1835Thr
XR_427661.2:n.8454A>C
XR_925644.1:n.8454A>C
XM_005248345.4:c.8279A>C	XP_005248402.1:p.Lys2760Thr
XM_005248346.4:c.8276A>C	XP_005248403.1:p.Lys2759Thr
XM_005248347.4:c.8276A>C	XP_005248404.1:p.Lys2759Thr
XM_005248349.4:c.8168A>C	XP_005248406.1:p.Lys2723Thr
XM_005248350.4:c.8150A>C	XP_005248407.1:p.Lys2717Thr
XM_006714491.3:c.2852A>C	XP_006714554.1:p.Lys951Thr
XM_011514085.3:c.8279A>C	XP_011512387.1:p.Lys2760Thr
XM_011514086.3:c.8279A>C	XP_011512388.1:p.Lys2760Thr
XM_011514087.2:c.8225A>C	XP_011512389.1:p.Lys2742Thr
XM_011514088.2:c.8171A>C	XP_011512390.1:p.Lys2724Thr
XM_011514089.2:c.8279A>C	XP_011512391.1:p.Lys2760Thr
XM_011514090.3:c.7961A>C	XP_011512392.1:p.Lys2654Thr
XM_011514092.2:c.8279A>C	XP_011512394.1:p.Lys2760Thr
XM_011514094.2:c.5504A>C	XP_011512396.1:p.Lys1835Thr
XM_017009760.1:c.8090A>C	XP_016865249.1:p.Lys2697Thr
XM_017009761.2:c.8090A>C	XP_016865250.1:p.Lys2697Thr
XM_017009763.1:c.7286A>C	XP_016865252.1:p.Lys2429Thr
XM_017009765.1:c.7091A>C	XP_016865254.1:p.Lys2364Thr
XM_017009766.1:c.4922A>C	XP_016865255.1:p.Lys1641Thr
XM_024446183.1:c.8090A>C	XP_024301951.1:p.Lys2697Thr
XM_024446184.1:c.7961A>C	XP_024301952.1:p.Lys2654Thr
XM_024446185.1:c.7607A>C	XP_024301953.1:p.Lys2536Thr
XM_024446186.1:c.7286A>C	XP_024301954.1:p.Lys2429Thr
XR_001742208.1:n.8448A>C
XR_002956171.1:n.8394A>C
XR_925644.2:n.8503A>C
NM_001384732.1:c.8279A>C MANE Select	NP_001371661.1:p.Lys2760Thr
NM_023073.4:c.8117A>C	NP_075561.3:p.Lys2706Thr