Canonical Allele Identifier: CA359474357

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37154069T>G (hg19) ; chr5:g.37153967T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153967T>G , CM000667.2:g.37153967T>G	GRCh38
NC_000005.9:g.37154069T>G , CM000667.1:g.37154069T>G	GRCh37
NC_000005.8:g.37189826T>G	NCBI36
NG_032772.1:g.100462A>C
NG_032772.2:g.100462A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1145A>C
ENST00000651892.2:c.8146A>C MANE Select	ENSP00000498265.2:p.Lys2716Gln
ENST00000425232.6:c.7984A>C	ENSP00000389014.2:p.Lys2662Gln
ENST00000508244.5:c.7984A>C	ENSP00000421690.1:p.Lys2662Gln
ENST00000509849.5:c.5158A>C	ENSP00000426337.1:p.Lys1720Gln
ENST00000509957.5:n.388A>C
ENST00000511210.5:n.437A>C
ENST00000511824.2:c.1260A>C
ENST00000514429.5:c.5182A>C	ENSP00000424223.1:p.Lys1728Gln
ENST00000515380.1:n.398A>C
NM_023073.3:c.7984A>C	NP_075561.3:p.Lys2662Gln
XM_005248345.2:c.8146A>C	XP_005248402.1:p.Lys2716Gln
XM_005248346.2:c.8143A>C	XP_005248403.1:p.Lys2715Gln
XM_005248347.2:c.8143A>C	XP_005248404.1:p.Lys2715Gln
XM_005248349.2:c.8035A>C	XP_005248406.1:p.Lys2679Gln
XM_005248350.2:c.8017A>C	XP_005248407.1:p.Lys2673Gln
XM_005248353.3:c.4789A>C	XP_005248410.1:p.Lys1597Gln
XM_006714489.2:c.8146A>C	XP_006714552.1:p.Lys2716Gln
XM_006714491.2:c.2719A>C	XP_006714554.1:p.Lys907Gln
XM_011514085.1:c.8146A>C	XP_011512387.1:p.Lys2716Gln
XM_011514086.1:c.8146A>C	XP_011512388.1:p.Lys2716Gln
XM_011514087.1:c.8092A>C	XP_011512389.1:p.Lys2698Gln
XM_011514088.1:c.8038A>C	XP_011512390.1:p.Lys2680Gln
XM_011514089.1:c.8146A>C	XP_011512391.1:p.Lys2716Gln
XM_011514090.1:c.7828A>C	XP_011512392.1:p.Lys2610Gln
XM_011514091.1:c.7474A>C	XP_011512393.1:p.Lys2492Gln
XM_011514092.1:c.8146A>C	XP_011512394.1:p.Lys2716Gln
XM_011514094.1:c.5371A>C	XP_011512396.1:p.Lys1791Gln
XR_427661.2:n.8321A>C
XR_925644.1:n.8321A>C
XM_005248345.4:c.8146A>C	XP_005248402.1:p.Lys2716Gln
XM_005248346.4:c.8143A>C	XP_005248403.1:p.Lys2715Gln
XM_005248347.4:c.8143A>C	XP_005248404.1:p.Lys2715Gln
XM_005248349.4:c.8035A>C	XP_005248406.1:p.Lys2679Gln
XM_005248350.4:c.8017A>C	XP_005248407.1:p.Lys2673Gln
XM_006714491.3:c.2719A>C	XP_006714554.1:p.Lys907Gln
XM_011514085.3:c.8146A>C	XP_011512387.1:p.Lys2716Gln
XM_011514086.3:c.8146A>C	XP_011512388.1:p.Lys2716Gln
XM_011514087.2:c.8092A>C	XP_011512389.1:p.Lys2698Gln
XM_011514088.2:c.8038A>C	XP_011512390.1:p.Lys2680Gln
XM_011514089.2:c.8146A>C	XP_011512391.1:p.Lys2716Gln
XM_011514090.3:c.7828A>C	XP_011512392.1:p.Lys2610Gln
XM_011514092.2:c.8146A>C	XP_011512394.1:p.Lys2716Gln
XM_011514094.2:c.5371A>C	XP_011512396.1:p.Lys1791Gln
XM_017009760.1:c.7957A>C	XP_016865249.1:p.Lys2653Gln
XM_017009761.2:c.7957A>C	XP_016865250.1:p.Lys2653Gln
XM_017009763.1:c.7153A>C	XP_016865252.1:p.Lys2385Gln
XM_017009765.1:c.6958A>C	XP_016865254.1:p.Lys2320Gln
XM_017009766.1:c.4789A>C	XP_016865255.1:p.Lys1597Gln
XM_024446183.1:c.7957A>C	XP_024301951.1:p.Lys2653Gln
XM_024446184.1:c.7828A>C	XP_024301952.1:p.Lys2610Gln
XM_024446185.1:c.7474A>C	XP_024301953.1:p.Lys2492Gln
XM_024446186.1:c.7153A>C	XP_024301954.1:p.Lys2385Gln
XR_001742208.1:n.8315A>C
XR_002956171.1:n.8261A>C
XR_925644.2:n.8370A>C
NM_001384732.1:c.8146A>C MANE Select	NP_001371661.1:p.Lys2716Gln
NM_023073.4:c.7984A>C	NP_075561.3:p.Lys2662Gln