Canonical Allele Identifier: CA359473589

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37153842C>G (hg19) ; chr5:g.37153740C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153740C>G , CM000667.2:g.37153740C>G	GRCh38
NC_000005.9:g.37153842C>G , CM000667.1:g.37153842C>G	GRCh37
NC_000005.8:g.37189599C>G	NCBI36
NG_032772.1:g.100689G>C
NG_032772.2:g.100689G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1372G>C
ENST00000651892.2:c.8373G>C MANE Select	ENSP00000498265.2:p.Lys2791Asn
ENST00000425232.6:c.8211G>C	ENSP00000389014.2:p.Lys2737Asn
ENST00000508244.5:c.8211G>C	ENSP00000421690.1:p.Lys2737Asn
ENST00000508405.1:n.105G>C
ENST00000509849.5:c.5385G>C	ENSP00000426337.1:p.Lys1795Asn
ENST00000509957.5:n.615G>C
ENST00000511824.2:c.1487G>C
ENST00000514429.5:c.5409G>C	ENSP00000424223.1:p.Lys1803Asn
NM_023073.3:c.8211G>C	NP_075561.3:p.Lys2737Asn
XM_005248345.2:c.8373G>C	XP_005248402.1:p.Lys2791Asn
XM_005248346.2:c.8370G>C	XP_005248403.1:p.Lys2790Asn
XM_005248347.2:c.8370G>C	XP_005248404.1:p.Lys2790Asn
XM_005248349.2:c.8262G>C	XP_005248406.1:p.Lys2754Asn
XM_005248350.2:c.8244G>C	XP_005248407.1:p.Lys2748Asn
XM_005248353.3:c.5016G>C	XP_005248410.1:p.Lys1672Asn
XM_006714489.2:c.8373G>C	XP_006714552.1:p.Lys2791Asn
XM_006714491.2:c.2946G>C	XP_006714554.1:p.Lys982Asn
XM_011514085.1:c.8373G>C	XP_011512387.1:p.Lys2791Asn
XM_011514086.1:c.8373G>C	XP_011512388.1:p.Lys2791Asn
XM_011514087.1:c.8319G>C	XP_011512389.1:p.Lys2773Asn
XM_011514088.1:c.8265G>C	XP_011512390.1:p.Lys2755Asn
XM_011514089.1:c.8373G>C	XP_011512391.1:p.Lys2791Asn
XM_011514090.1:c.8055G>C	XP_011512392.1:p.Lys2685Asn
XM_011514091.1:c.7701G>C	XP_011512393.1:p.Lys2567Asn
XM_011514092.1:c.8373G>C	XP_011512394.1:p.Lys2791Asn
XM_011514094.1:c.5598G>C	XP_011512396.1:p.Lys1866Asn
XR_427661.2:n.8548G>C
XR_925644.1:n.8548G>C
XM_005248345.4:c.8373G>C	XP_005248402.1:p.Lys2791Asn
XM_005248346.4:c.8370G>C	XP_005248403.1:p.Lys2790Asn
XM_005248347.4:c.8370G>C	XP_005248404.1:p.Lys2790Asn
XM_005248349.4:c.8262G>C	XP_005248406.1:p.Lys2754Asn
XM_005248350.4:c.8244G>C	XP_005248407.1:p.Lys2748Asn
XM_006714491.3:c.2946G>C	XP_006714554.1:p.Lys982Asn
XM_011514085.3:c.8373G>C	XP_011512387.1:p.Lys2791Asn
XM_011514086.3:c.8373G>C	XP_011512388.1:p.Lys2791Asn
XM_011514087.2:c.8319G>C	XP_011512389.1:p.Lys2773Asn
XM_011514088.2:c.8265G>C	XP_011512390.1:p.Lys2755Asn
XM_011514089.2:c.8373G>C	XP_011512391.1:p.Lys2791Asn
XM_011514090.3:c.8055G>C	XP_011512392.1:p.Lys2685Asn
XM_011514092.2:c.8373G>C	XP_011512394.1:p.Lys2791Asn
XM_011514094.2:c.5598G>C	XP_011512396.1:p.Lys1866Asn
XM_017009760.1:c.8184G>C	XP_016865249.1:p.Lys2728Asn
XM_017009761.2:c.8184G>C	XP_016865250.1:p.Lys2728Asn
XM_017009763.1:c.7380G>C	XP_016865252.1:p.Lys2460Asn
XM_017009765.1:c.7185G>C	XP_016865254.1:p.Lys2395Asn
XM_017009766.1:c.5016G>C	XP_016865255.1:p.Lys1672Asn
XM_024446183.1:c.8184G>C	XP_024301951.1:p.Lys2728Asn
XM_024446184.1:c.8055G>C	XP_024301952.1:p.Lys2685Asn
XM_024446185.1:c.7701G>C	XP_024301953.1:p.Lys2567Asn
XM_024446186.1:c.7380G>C	XP_024301954.1:p.Lys2460Asn
XR_001742208.1:n.8542G>C
XR_002956171.1:n.8488G>C
XR_925644.2:n.8597G>C
NM_001384732.1:c.8373G>C MANE Select	NP_001371661.1:p.Lys2791Asn
NM_023073.4:c.8211G>C	NP_075561.3:p.Lys2737Asn