Canonical Allele Identifier: CA359496536

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37122536C>A (hg19) ; chr5:g.37122434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122434C>A , CM000667.2:g.37122434C>A	GRCh38
NC_000005.9:g.37122536C>A , CM000667.1:g.37122536C>A	GRCh37
NC_000005.8:g.37158293C>A	NCBI36
NG_032772.1:g.131995G>T
NG_032772.2:g.131995G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.9013G>T MANE Select	ENSP00000498265.2:p.Asp3005Tyr
ENST00000676160.1:n.874G>T
ENST00000425232.6:c.8851G>T	ENSP00000389014.2:p.Asp2951Tyr
ENST00000508244.5:c.8851G>T	ENSP00000421690.1:p.Asp2951Tyr
ENST00000509849.5:c.6025G>T	ENSP00000426337.1:n.6025G>T
ENST00000512288.5:n.342-650G>T
ENST00000514429.5:c.6049G>T	ENSP00000424223.1:p.Asp2017Tyr
NM_023073.3:c.8851G>T	NP_075561.3:p.Asp2951Tyr
XM_005248345.2:c.9013G>T	XP_005248402.1:p.Asp3005Tyr
XM_005248346.2:c.9010G>T	XP_005248403.1:p.Asp3004Tyr
XM_005248347.2:c.9010G>T	XP_005248404.1:p.Asp3004Tyr
XM_005248349.2:c.8902G>T	XP_005248406.1:p.Asp2968Tyr
XM_005248350.2:c.8884G>T	XP_005248407.1:p.Asp2962Tyr
XM_005248353.3:c.5656G>T	XP_005248410.1:p.Asp1886Tyr
XM_006714489.2:c.9013G>T	XP_006714552.1:p.Asp3005Tyr
XM_006714491.2:c.3586G>T	XP_006714554.1:p.Asp1196Tyr
XM_011514085.1:c.9013G>T	XP_011512387.1:p.Asp3005Tyr
XM_011514086.1:c.9013G>T	XP_011512388.1:p.Asp3005Tyr
XM_011514087.1:c.8959G>T	XP_011512389.1:p.Asp2987Tyr
XM_011514088.1:c.8905G>T	XP_011512390.1:p.Asp2969Tyr
XM_011514089.1:c.9013G>T	XP_011512391.1:p.Asp3005Tyr
XM_011514090.1:c.8695G>T	XP_011512392.1:p.Asp2899Tyr
XM_011514091.1:c.8341G>T	XP_011512393.1:p.Asp2781Tyr
XM_011514092.1:c.9013G>T	XP_011512394.1:p.Asp3005Tyr
XM_011514094.1:c.6238G>T	XP_011512396.1:p.Asp2080Tyr
XR_427661.2:n.9188G>T
XR_925644.1:n.9188G>T
XM_005248345.4:c.9013G>T	XP_005248402.1:p.Asp3005Tyr
XM_005248346.4:c.9010G>T	XP_005248403.1:p.Asp3004Tyr
XM_005248347.4:c.9010G>T	XP_005248404.1:p.Asp3004Tyr
XM_005248349.4:c.8902G>T	XP_005248406.1:p.Asp2968Tyr
XM_005248350.4:c.8884G>T	XP_005248407.1:p.Asp2962Tyr
XM_006714491.3:c.3586G>T	XP_006714554.1:p.Asp1196Tyr
XM_011514085.3:c.9013G>T	XP_011512387.1:p.Asp3005Tyr
XM_011514086.3:c.9013G>T	XP_011512388.1:p.Asp3005Tyr
XM_011514087.2:c.8959G>T	XP_011512389.1:p.Asp2987Tyr
XM_011514088.2:c.8905G>T	XP_011512390.1:p.Asp2969Tyr
XM_011514089.2:c.9013G>T	XP_011512391.1:p.Asp3005Tyr
XM_011514090.3:c.8695G>T	XP_011512392.1:p.Asp2899Tyr
XM_011514092.2:c.9013G>T	XP_011512394.1:p.Asp3005Tyr
XM_011514094.2:c.6238G>T	XP_011512396.1:p.Asp2080Tyr
XM_017009760.1:c.8824G>T	XP_016865249.1:p.Asp2942Tyr
XM_017009761.2:c.8824G>T	XP_016865250.1:p.Asp2942Tyr
XM_017009763.1:c.8020G>T	XP_016865252.1:p.Asp2674Tyr
XM_017009765.1:c.7825G>T	XP_016865254.1:p.Asp2609Tyr
XM_017009766.1:c.5656G>T	XP_016865255.1:p.Asp1886Tyr
XM_024446183.1:c.8824G>T	XP_024301951.1:p.Asp2942Tyr
XM_024446184.1:c.8695G>T	XP_024301952.1:p.Asp2899Tyr
XM_024446185.1:c.8341G>T	XP_024301953.1:p.Asp2781Tyr
XM_024446186.1:c.8020G>T	XP_024301954.1:p.Asp2674Tyr
XR_925644.2:n.9237G>T
NM_001384732.1:c.9013G>T MANE Select	NP_001371661.1:p.Asp3005Tyr
NM_023073.4:c.8851G>T	NP_075561.3:p.Asp2951Tyr