Canonical Allele Identifier: CA359506538

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37139339C>A , CM000667.2:g.37139339C>A	GRCh38
NC_000005.9:g.37139441C>A , CM000667.1:g.37139441C>A	GRCh37
NC_000005.8:g.37175198C>A	NCBI36
NG_032772.1:g.115090G>T
NG_032772.2:g.115090G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.8663+1G>T MANE Select	NP_001371661.1:n.8663+1G>T
ENST00000651892.2:c.8663+1G>T MANE Select	ENSP00000498265.2:n.8663+1G>T
NM_023073.3:c.8501+1G>T	NP_075561.3:n.8501+1G>T
NM_023073.4:c.8501+1G>T	NP_075561.3:n.8501+1G>T
ENST00000425232.6:c.8501+1G>T	ENSP00000389014.2:n.8501+1G>T
ENST00000504716.1:n.248+1G>T
ENST00000505121.1:n.363+1G>T
ENST00000508244.5:c.8501+1G>T	ENSP00000421690.1:n.8501+1G>T
ENST00000508405.1:n.365-491G>T
ENST00000509849.5:c.5645-491G>T	ENSP00000426337.1:n.5645-491G>T
ENST00000509957.5:n.3844+1G>T
ENST00000510830.2:n.1662+1G>T
ENST00000512288.5:n.212+1G>T
ENST00000514429.5:c.5699+1G>T	ENSP00000424223.1:n.5699+1G>T
XM_005248345.2:c.8663+1G>T	XP_005248402.1:n.8663+1G>T
XM_005248345.4:c.8663+1G>T	XP_005248402.1:n.8663+1G>T
XM_005248346.2:c.8660+1G>T	XP_005248403.1:n.8660+1G>T
XM_005248346.4:c.8660+1G>T	XP_005248403.1:n.8660+1G>T
XM_005248347.2:c.8660+1G>T	XP_005248404.1:n.8660+1G>T
XM_005248347.4:c.8660+1G>T	XP_005248404.1:n.8660+1G>T
XM_005248349.2:c.8552+1G>T	XP_005248406.1:n.8552+1G>T
XM_005248349.4:c.8552+1G>T	XP_005248406.1:n.8552+1G>T
XM_005248350.2:c.8534+1G>T	XP_005248407.1:n.8534+1G>T
XM_005248350.4:c.8534+1G>T	XP_005248407.1:n.8534+1G>T
XM_005248353.3:c.5306+1G>T	XP_005248410.1:n.5306+1G>T
XM_006714489.2:c.8663+1G>T	XP_006714552.1:n.8663+1G>T
XM_006714491.2:c.3236+1G>T	XP_006714554.1:n.3236+1G>T
XM_006714491.3:c.3236+1G>T	XP_006714554.1:n.3236+1G>T
XM_011514085.1:c.8663+1G>T	XP_011512387.1:n.8663+1G>T
XM_011514085.3:c.8663+1G>T	XP_011512387.1:n.8663+1G>T
XM_011514086.1:c.8663+1G>T	XP_011512388.1:n.8663+1G>T
XM_011514086.3:c.8663+1G>T	XP_011512388.1:n.8663+1G>T
XM_011514087.1:c.8609+1G>T	XP_011512389.1:n.8609+1G>T
XM_011514087.2:c.8609+1G>T	XP_011512389.1:n.8609+1G>T
XM_011514088.1:c.8555+1G>T	XP_011512390.1:n.8555+1G>T
XM_011514088.2:c.8555+1G>T	XP_011512390.1:n.8555+1G>T
XM_011514089.1:c.8663+1G>T	XP_011512391.1:n.8663+1G>T
XM_011514089.2:c.8663+1G>T	XP_011512391.1:n.8663+1G>T
XM_011514090.1:c.8345+1G>T	XP_011512392.1:n.8345+1G>T
XM_011514090.3:c.8345+1G>T	XP_011512392.1:n.8345+1G>T
XM_011514091.1:c.7991+1G>T	XP_011512393.1:n.7991+1G>T
XM_011514092.1:c.8663+1G>T	XP_011512394.1:n.8663+1G>T
XM_011514092.2:c.8663+1G>T	XP_011512394.1:n.8663+1G>T
XM_011514094.1:c.5888+1G>T	XP_011512396.1:n.5888+1G>T
XM_011514094.2:c.5888+1G>T	XP_011512396.1:n.5888+1G>T
XM_017009760.1:c.8474+1G>T	XP_016865249.1:n.8474+1G>T
XM_017009761.2:c.8474+1G>T	XP_016865250.1:n.8474+1G>T
XM_017009763.1:c.7670+1G>T	XP_016865252.1:n.7670+1G>T
XM_017009765.1:c.7475+1G>T	XP_016865254.1:n.7475+1G>T
XM_017009766.1:c.5306+1G>T	XP_016865255.1:n.5306+1G>T
XM_024446183.1:c.8474+1G>T	XP_024301951.1:n.8474+1G>T
XM_024446184.1:c.8345+1G>T	XP_024301952.1:n.8345+1G>T
XM_024446185.1:c.7991+1G>T	XP_024301953.1:n.7991+1G>T
XM_024446186.1:c.7670+1G>T	XP_024301954.1:n.7670+1G>T
XR_001742208.1:n.8832+1G>T
XR_427661.2:n.8838+1G>T
XR_925644.1:n.8838+1G>T
XR_925644.2:n.8887+1G>T