Canonical Allele Identifier: CA2739880847

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157358G>A , CM000667.2:g.37157358G>A	GRCh38
NC_000005.9:g.37157460G>A , CM000667.1:g.37157460G>A	GRCh37
NC_000005.8:g.37193217G>A	NCBI36
NG_032772.1:g.97071C>T
NG_032772.2:g.97071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1073C>T
ENST00000651892.2:c.8074C>T MANE Select	ENSP00000498265.2:p.Pro2692Ser
ENST00000425232.6:c.7957+312C>T	ENSP00000389014.2:n.7957+312C>T
ENST00000508244.5:c.7957+312C>T	ENSP00000421690.1:n.7957+312C>T
ENST00000509849.5:c.5086C>T	ENSP00000426337.1:p.Pro1696Ser
ENST00000509957.5:n.316C>T
ENST00000511210.5:n.365C>T
ENST00000511824.2:c.1188C>T
ENST00000514429.5:c.5155+312C>T	ENSP00000424223.1:n.5155+312C>T
ENST00000515380.1:n.326C>T
NM_023073.3:c.7957+312C>T	NP_075561.3:n.7957+312C>T
XM_005248345.2:c.8074C>T	XP_005248402.1:p.Pro2692Ser
XM_005248346.2:c.8071C>T	XP_005248403.1:p.Pro2691Ser
XM_005248347.2:c.8071C>T	XP_005248404.1:p.Pro2691Ser
XM_005248349.2:c.8008+312C>T	XP_005248406.1:n.8008+312C>T
XM_005248350.2:c.7945C>T	XP_005248407.1:p.Pro2649Ser
XM_005248353.3:c.4717C>T	XP_005248410.1:p.Pro1573Ser
XM_006714489.2:c.8074C>T	XP_006714552.1:p.Pro2692Ser
XM_006714491.2:c.2647C>T	XP_006714554.1:p.Pro883Ser
XM_011514085.1:c.8074C>T	XP_011512387.1:p.Pro2692Ser
XM_011514086.1:c.8074C>T	XP_011512388.1:p.Pro2692Ser
XM_011514087.1:c.8020C>T	XP_011512389.1:p.Pro2674Ser
XM_011514088.1:c.8011+312C>T	XP_011512390.1:n.8011+312C>T
XM_011514089.1:c.8074C>T	XP_011512391.1:p.Pro2692Ser
XM_011514090.1:c.7756C>T	XP_011512392.1:p.Pro2586Ser
XM_011514091.1:c.7402C>T	XP_011512393.1:p.Pro2468Ser
XM_011514092.1:c.8074C>T	XP_011512394.1:p.Pro2692Ser
XM_011514094.1:c.5299C>T	XP_011512396.1:p.Pro1767Ser
XR_427661.2:n.8249C>T
XR_925644.1:n.8249C>T
XM_005248345.4:c.8074C>T	XP_005248402.1:p.Pro2692Ser
XM_005248346.4:c.8071C>T	XP_005248403.1:p.Pro2691Ser
XM_005248347.4:c.8071C>T	XP_005248404.1:p.Pro2691Ser
XM_005248349.4:c.8008+312C>T	XP_005248406.1:n.8008+312C>T
XM_005248350.4:c.7945C>T	XP_005248407.1:p.Pro2649Ser
XM_006714491.3:c.2647C>T	XP_006714554.1:p.Pro883Ser
XM_011514085.3:c.8074C>T	XP_011512387.1:p.Pro2692Ser
XM_011514086.3:c.8074C>T	XP_011512388.1:p.Pro2692Ser
XM_011514087.2:c.8020C>T	XP_011512389.1:p.Pro2674Ser
XM_011514088.2:c.8011+312C>T	XP_011512390.1:n.8011+312C>T
XM_011514089.2:c.8074C>T	XP_011512391.1:p.Pro2692Ser
XM_011514090.3:c.7756C>T	XP_011512392.1:p.Pro2586Ser
XM_011514092.2:c.8074C>T	XP_011512394.1:p.Pro2692Ser
XM_011514094.2:c.5299C>T	XP_011512396.1:p.Pro1767Ser
XM_017009760.1:c.7885C>T	XP_016865249.1:p.Pro2629Ser
XM_017009761.2:c.7885C>T	XP_016865250.1:p.Pro2629Ser
XM_017009763.1:c.7081C>T	XP_016865252.1:p.Pro2361Ser
XM_017009765.1:c.6886C>T	XP_016865254.1:p.Pro2296Ser
XM_017009766.1:c.4717C>T	XP_016865255.1:p.Pro1573Ser
XM_024446183.1:c.7885C>T	XP_024301951.1:p.Pro2629Ser
XM_024446184.1:c.7756C>T	XP_024301952.1:p.Pro2586Ser
XM_024446185.1:c.7402C>T	XP_024301953.1:p.Pro2468Ser
XM_024446186.1:c.7081C>T	XP_024301954.1:p.Pro2361Ser
XR_001742208.1:n.8243C>T
XR_002956171.1:n.8189C>T
XR_925644.2:n.8298C>T
NM_001384732.1:c.8074C>T MANE Select	NP_001371661.1:p.Pro2692Ser
NM_023073.4:c.7957+312C>T	NP_075561.3:n.7957+312C>T