Canonical Allele Identifier: CA359474349

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37154068T>G (hg19) ; chr5:g.37153966T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153966T>G , CM000667.2:g.37153966T>G	GRCh38
NC_000005.9:g.37154068T>G , CM000667.1:g.37154068T>G	GRCh37
NC_000005.8:g.37189825T>G	NCBI36
NG_032772.1:g.100463A>C
NG_032772.2:g.100463A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1146A>C
ENST00000651892.2:c.8147A>C MANE Select	ENSP00000498265.2:p.Lys2716Thr
ENST00000425232.6:c.7985A>C	ENSP00000389014.2:p.Lys2662Thr
ENST00000508244.5:c.7985A>C	ENSP00000421690.1:p.Lys2662Thr
ENST00000509849.5:c.5159A>C	ENSP00000426337.1:p.Lys1720Thr
ENST00000509957.5:n.389A>C
ENST00000511210.5:n.438A>C
ENST00000511824.2:c.1261A>C
ENST00000514429.5:c.5183A>C	ENSP00000424223.1:p.Lys1728Thr
ENST00000515380.1:n.399A>C
NM_023073.3:c.7985A>C	NP_075561.3:p.Lys2662Thr
XM_005248345.2:c.8147A>C	XP_005248402.1:p.Lys2716Thr
XM_005248346.2:c.8144A>C	XP_005248403.1:p.Lys2715Thr
XM_005248347.2:c.8144A>C	XP_005248404.1:p.Lys2715Thr
XM_005248349.2:c.8036A>C	XP_005248406.1:p.Lys2679Thr
XM_005248350.2:c.8018A>C	XP_005248407.1:p.Lys2673Thr
XM_005248353.3:c.4790A>C	XP_005248410.1:p.Lys1597Thr
XM_006714489.2:c.8147A>C	XP_006714552.1:p.Lys2716Thr
XM_006714491.2:c.2720A>C	XP_006714554.1:p.Lys907Thr
XM_011514085.1:c.8147A>C	XP_011512387.1:p.Lys2716Thr
XM_011514086.1:c.8147A>C	XP_011512388.1:p.Lys2716Thr
XM_011514087.1:c.8093A>C	XP_011512389.1:p.Lys2698Thr
XM_011514088.1:c.8039A>C	XP_011512390.1:p.Lys2680Thr
XM_011514089.1:c.8147A>C	XP_011512391.1:p.Lys2716Thr
XM_011514090.1:c.7829A>C	XP_011512392.1:p.Lys2610Thr
XM_011514091.1:c.7475A>C	XP_011512393.1:p.Lys2492Thr
XM_011514092.1:c.8147A>C	XP_011512394.1:p.Lys2716Thr
XM_011514094.1:c.5372A>C	XP_011512396.1:p.Lys1791Thr
XR_427661.2:n.8322A>C
XR_925644.1:n.8322A>C
XM_005248345.4:c.8147A>C	XP_005248402.1:p.Lys2716Thr
XM_005248346.4:c.8144A>C	XP_005248403.1:p.Lys2715Thr
XM_005248347.4:c.8144A>C	XP_005248404.1:p.Lys2715Thr
XM_005248349.4:c.8036A>C	XP_005248406.1:p.Lys2679Thr
XM_005248350.4:c.8018A>C	XP_005248407.1:p.Lys2673Thr
XM_006714491.3:c.2720A>C	XP_006714554.1:p.Lys907Thr
XM_011514085.3:c.8147A>C	XP_011512387.1:p.Lys2716Thr
XM_011514086.3:c.8147A>C	XP_011512388.1:p.Lys2716Thr
XM_011514087.2:c.8093A>C	XP_011512389.1:p.Lys2698Thr
XM_011514088.2:c.8039A>C	XP_011512390.1:p.Lys2680Thr
XM_011514089.2:c.8147A>C	XP_011512391.1:p.Lys2716Thr
XM_011514090.3:c.7829A>C	XP_011512392.1:p.Lys2610Thr
XM_011514092.2:c.8147A>C	XP_011512394.1:p.Lys2716Thr
XM_011514094.2:c.5372A>C	XP_011512396.1:p.Lys1791Thr
XM_017009760.1:c.7958A>C	XP_016865249.1:p.Lys2653Thr
XM_017009761.2:c.7958A>C	XP_016865250.1:p.Lys2653Thr
XM_017009763.1:c.7154A>C	XP_016865252.1:p.Lys2385Thr
XM_017009765.1:c.6959A>C	XP_016865254.1:p.Lys2320Thr
XM_017009766.1:c.4790A>C	XP_016865255.1:p.Lys1597Thr
XM_024446183.1:c.7958A>C	XP_024301951.1:p.Lys2653Thr
XM_024446184.1:c.7829A>C	XP_024301952.1:p.Lys2610Thr
XM_024446185.1:c.7475A>C	XP_024301953.1:p.Lys2492Thr
XM_024446186.1:c.7154A>C	XP_024301954.1:p.Lys2385Thr
XR_001742208.1:n.8316A>C
XR_002956171.1:n.8262A>C
XR_925644.2:n.8371A>C
NM_001384732.1:c.8147A>C MANE Select	NP_001371661.1:p.Lys2716Thr
NM_023073.4:c.7985A>C	NP_075561.3:p.Lys2662Thr