Canonical Allele Identifier: CA2739880914

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157399T>C , CM000667.2:g.37157399T>C	GRCh38
NC_000005.9:g.37157501T>C , CM000667.1:g.37157501T>C	GRCh37
NC_000005.8:g.37193258T>C	NCBI36
NG_032772.1:g.97030A>G
NG_032772.2:g.97030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1032A>G
ENST00000651892.2:c.8033A>G MANE Select	ENSP00000498265.2:p.Asp2678Gly
ENST00000425232.6:c.7957+271A>G	ENSP00000389014.2:n.7957+271A>G
ENST00000508244.5:c.7957+271A>G	ENSP00000421690.1:n.7957+271A>G
ENST00000509849.5:c.5045A>G	ENSP00000426337.1:p.Asp1682Gly
ENST00000509957.5:n.275A>G
ENST00000511210.5:n.324A>G
ENST00000511824.2:c.1147A>G
ENST00000514429.5:c.5155+271A>G	ENSP00000424223.1:n.5155+271A>G
ENST00000515380.1:n.285A>G
NM_023073.3:c.7957+271A>G	NP_075561.3:n.7957+271A>G
XM_005248345.2:c.8033A>G	XP_005248402.1:p.Asp2678Gly
XM_005248346.2:c.8030A>G	XP_005248403.1:p.Asp2677Gly
XM_005248347.2:c.8030A>G	XP_005248404.1:p.Asp2677Gly
XM_005248349.2:c.8008+271A>G	XP_005248406.1:n.8008+271A>G
XM_005248350.2:c.7904A>G	XP_005248407.1:p.Asp2635Gly
XM_005248353.3:c.4676A>G	XP_005248410.1:p.Asp1559Gly
XM_006714489.2:c.8033A>G	XP_006714552.1:p.Asp2678Gly
XM_006714491.2:c.2606A>G	XP_006714554.1:p.Asp869Gly
XM_011514085.1:c.8033A>G	XP_011512387.1:p.Asp2678Gly
XM_011514086.1:c.8033A>G	XP_011512388.1:p.Asp2678Gly
XM_011514087.1:c.7979A>G	XP_011512389.1:p.Asp2660Gly
XM_011514088.1:c.8011+271A>G	XP_011512390.1:n.8011+271A>G
XM_011514089.1:c.8033A>G	XP_011512391.1:p.Asp2678Gly
XM_011514090.1:c.7715A>G	XP_011512392.1:p.Asp2572Gly
XM_011514091.1:c.7361A>G	XP_011512393.1:p.Asp2454Gly
XM_011514092.1:c.8033A>G	XP_011512394.1:p.Asp2678Gly
XM_011514094.1:c.5258A>G	XP_011512396.1:p.Asp1753Gly
XR_427661.2:n.8208A>G
XR_925644.1:n.8208A>G
XM_005248345.4:c.8033A>G	XP_005248402.1:p.Asp2678Gly
XM_005248346.4:c.8030A>G	XP_005248403.1:p.Asp2677Gly
XM_005248347.4:c.8030A>G	XP_005248404.1:p.Asp2677Gly
XM_005248349.4:c.8008+271A>G	XP_005248406.1:n.8008+271A>G
XM_005248350.4:c.7904A>G	XP_005248407.1:p.Asp2635Gly
XM_006714491.3:c.2606A>G	XP_006714554.1:p.Asp869Gly
XM_011514085.3:c.8033A>G	XP_011512387.1:p.Asp2678Gly
XM_011514086.3:c.8033A>G	XP_011512388.1:p.Asp2678Gly
XM_011514087.2:c.7979A>G	XP_011512389.1:p.Asp2660Gly
XM_011514088.2:c.8011+271A>G	XP_011512390.1:n.8011+271A>G
XM_011514089.2:c.8033A>G	XP_011512391.1:p.Asp2678Gly
XM_011514090.3:c.7715A>G	XP_011512392.1:p.Asp2572Gly
XM_011514092.2:c.8033A>G	XP_011512394.1:p.Asp2678Gly
XM_011514094.2:c.5258A>G	XP_011512396.1:p.Asp1753Gly
XM_017009760.1:c.7844A>G	XP_016865249.1:p.Asp2615Gly
XM_017009761.2:c.7844A>G	XP_016865250.1:p.Asp2615Gly
XM_017009763.1:c.7040A>G	XP_016865252.1:p.Asp2347Gly
XM_017009765.1:c.6845A>G	XP_016865254.1:p.Asp2282Gly
XM_017009766.1:c.4676A>G	XP_016865255.1:p.Asp1559Gly
XM_024446183.1:c.7844A>G	XP_024301951.1:p.Asp2615Gly
XM_024446184.1:c.7715A>G	XP_024301952.1:p.Asp2572Gly
XM_024446185.1:c.7361A>G	XP_024301953.1:p.Asp2454Gly
XM_024446186.1:c.7040A>G	XP_024301954.1:p.Asp2347Gly
XR_001742208.1:n.8202A>G
XR_002956171.1:n.8148A>G
XR_925644.2:n.8257A>G
NM_001384732.1:c.8033A>G MANE Select	NP_001371661.1:p.Asp2678Gly
NM_023073.4:c.7957+271A>G	NP_075561.3:n.7957+271A>G