Canonical Allele Identifier: CA3238856

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37195864C>G , CM000667.2:g.37195864C>G	GRCh38
NC_000005.9:g.37195966C>G , CM000667.1:g.37195966C>G	GRCh37
NC_000005.8:g.37231723C>G	NCBI36
NG_032772.1:g.58565G>C
NG_032772.2:g.58565G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.3805G>C MANE Select	NP_001371661.1:p.Ala1269Pro
ENST00000651892.2:c.3805G>C MANE Select	ENSP00000498265.2:p.Ala1269Pro
NM_023073.3:c.3805G>C	NP_075561.3:p.Ala1269Pro
NM_023073.4:c.3805G>C	NP_075561.3:p.Ala1269Pro
ENST00000425232.6:c.3805G>C	ENSP00000389014.2:p.Ala1269Pro
ENST00000425232.7:c.3309G>C
ENST00000508244.5:c.3805G>C	ENSP00000421690.1:p.Ala1269Pro
ENST00000509849.5:c.820G>C	ENSP00000426337.1:p.Ala274Pro
ENST00000514429.5:c.949G>C	ENSP00000424223.1:p.Ala317Pro
ENST00000676290.1:n.3880G>C
XM_005248345.2:c.3805G>C	XP_005248402.1:p.Ala1269Pro
XM_005248345.4:c.3805G>C	XP_005248402.1:p.Ala1269Pro
XM_005248346.2:c.3805G>C	XP_005248403.1:p.Ala1269Pro
XM_005248346.4:c.3805G>C	XP_005248403.1:p.Ala1269Pro
XM_005248347.2:c.3805G>C	XP_005248404.1:p.Ala1269Pro
XM_005248347.4:c.3805G>C	XP_005248404.1:p.Ala1269Pro
XM_005248349.2:c.3805G>C	XP_005248406.1:p.Ala1269Pro
XM_005248349.4:c.3805G>C	XP_005248406.1:p.Ala1269Pro
XM_005248350.2:c.3676G>C	XP_005248407.1:p.Ala1226Pro
XM_005248350.4:c.3676G>C	XP_005248407.1:p.Ala1226Pro
XM_005248353.3:c.448G>C	XP_005248410.1:p.Ala150Pro
XM_006714489.2:c.3805G>C	XP_006714552.1:p.Ala1269Pro
XM_011514085.1:c.3805G>C	XP_011512387.1:p.Ala1269Pro
XM_011514085.3:c.3805G>C	XP_011512387.1:p.Ala1269Pro
XM_011514086.1:c.3805G>C	XP_011512388.1:p.Ala1269Pro
XM_011514086.3:c.3805G>C	XP_011512388.1:p.Ala1269Pro
XM_011514087.1:c.3805G>C	XP_011512389.1:p.Ala1269Pro
XM_011514087.2:c.3805G>C	XP_011512389.1:p.Ala1269Pro
XM_011514088.1:c.3805G>C	XP_011512390.1:p.Ala1269Pro
XM_011514088.2:c.3805G>C	XP_011512390.1:p.Ala1269Pro
XM_011514089.1:c.3805G>C	XP_011512391.1:p.Ala1269Pro
XM_011514089.2:c.3805G>C	XP_011512391.1:p.Ala1269Pro
XM_011514090.1:c.3487G>C	XP_011512392.1:p.Ala1163Pro
XM_011514090.3:c.3487G>C	XP_011512392.1:p.Ala1163Pro
XM_011514091.1:c.3133G>C	XP_011512393.1:p.Ala1045Pro
XM_011514092.1:c.3805G>C	XP_011512394.1:p.Ala1269Pro
XM_011514092.2:c.3805G>C	XP_011512394.1:p.Ala1269Pro
XM_011514093.1:c.3805G>C	XP_011512395.1:p.Ala1269Pro
XM_011514094.1:c.1030G>C	XP_011512396.1:p.Ala344Pro
XM_011514094.2:c.1030G>C	XP_011512396.1:p.Ala344Pro
XM_017009760.1:c.3616G>C	XP_016865249.1:p.Ala1206Pro
XM_017009761.2:c.3616G>C	XP_016865250.1:p.Ala1206Pro
XM_017009763.1:c.2812G>C	XP_016865252.1:p.Ala938Pro
XM_017009765.1:c.2617G>C	XP_016865254.1:p.Ala873Pro
XM_017009766.1:c.448G>C	XP_016865255.1:p.Ala150Pro
XM_024446183.1:c.3616G>C	XP_024301951.1:p.Ala1206Pro
XM_024446184.1:c.3487G>C	XP_024301952.1:p.Ala1163Pro
XM_024446185.1:c.3133G>C	XP_024301953.1:p.Ala1045Pro
XM_024446186.1:c.2812G>C	XP_024301954.1:p.Ala938Pro
XR_001742208.1:n.4029G>C
XR_002956171.1:n.4029G>C
XR_427661.2:n.3980G>C
XR_925644.1:n.3980G>C
XR_925644.2:n.4029G>C