Canonical Allele Identifier: CA359499336

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37125446C>G (hg19) ; chr5:g.37125344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125344C>G , CM000667.2:g.37125344C>G	GRCh38
NC_000005.9:g.37125446C>G , CM000667.1:g.37125446C>G	GRCh37
NC_000005.8:g.37161203C>G	NCBI36
NG_032772.1:g.129085G>C
NG_032772.2:g.129085G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1857G>C
ENST00000651892.2:c.8858G>C MANE Select	ENSP00000498265.2:p.Trp2953Ser
ENST00000676160.1:n.719G>C
ENST00000425232.6:c.8696G>C	ENSP00000389014.2:p.Trp2899Ser
ENST00000508244.5:c.8696G>C	ENSP00000421690.1:p.Trp2899Ser
ENST00000509849.5:c.5870G>C	ENSP00000426337.1:n.5870G>C
ENST00000509957.5:n.4039G>C
ENST00000512288.5:n.342-3560G>C
ENST00000514429.5:c.5894G>C	ENSP00000424223.1:p.Trp1965Ser
NM_023073.3:c.8696G>C	NP_075561.3:p.Trp2899Ser
XM_005248345.2:c.8858G>C	XP_005248402.1:p.Trp2953Ser
XM_005248346.2:c.8855G>C	XP_005248403.1:p.Trp2952Ser
XM_005248347.2:c.8855G>C	XP_005248404.1:p.Trp2952Ser
XM_005248349.2:c.8747G>C	XP_005248406.1:p.Trp2916Ser
XM_005248350.2:c.8729G>C	XP_005248407.1:p.Trp2910Ser
XM_005248353.3:c.5501G>C	XP_005248410.1:p.Trp1834Ser
XM_006714489.2:c.8858G>C	XP_006714552.1:p.Trp2953Ser
XM_006714491.2:c.3431G>C	XP_006714554.1:p.Trp1144Ser
XM_011514085.1:c.8858G>C	XP_011512387.1:p.Trp2953Ser
XM_011514086.1:c.8858G>C	XP_011512388.1:p.Trp2953Ser
XM_011514087.1:c.8804G>C	XP_011512389.1:p.Trp2935Ser
XM_011514088.1:c.8750G>C	XP_011512390.1:p.Trp2917Ser
XM_011514089.1:c.8858G>C	XP_011512391.1:p.Trp2953Ser
XM_011514090.1:c.8540G>C	XP_011512392.1:p.Trp2847Ser
XM_011514091.1:c.8186G>C	XP_011512393.1:p.Trp2729Ser
XM_011514092.1:c.8858G>C	XP_011512394.1:p.Trp2953Ser
XM_011514094.1:c.6083G>C	XP_011512396.1:p.Trp2028Ser
XR_427661.2:n.9033G>C
XR_925644.1:n.9033G>C
XM_005248345.4:c.8858G>C	XP_005248402.1:p.Trp2953Ser
XM_005248346.4:c.8855G>C	XP_005248403.1:p.Trp2952Ser
XM_005248347.4:c.8855G>C	XP_005248404.1:p.Trp2952Ser
XM_005248349.4:c.8747G>C	XP_005248406.1:p.Trp2916Ser
XM_005248350.4:c.8729G>C	XP_005248407.1:p.Trp2910Ser
XM_006714491.3:c.3431G>C	XP_006714554.1:p.Trp1144Ser
XM_011514085.3:c.8858G>C	XP_011512387.1:p.Trp2953Ser
XM_011514086.3:c.8858G>C	XP_011512388.1:p.Trp2953Ser
XM_011514087.2:c.8804G>C	XP_011512389.1:p.Trp2935Ser
XM_011514088.2:c.8750G>C	XP_011512390.1:p.Trp2917Ser
XM_011514089.2:c.8858G>C	XP_011512391.1:p.Trp2953Ser
XM_011514090.3:c.8540G>C	XP_011512392.1:p.Trp2847Ser
XM_011514092.2:c.8858G>C	XP_011512394.1:p.Trp2953Ser
XM_011514094.2:c.6083G>C	XP_011512396.1:p.Trp2028Ser
XM_017009760.1:c.8669G>C	XP_016865249.1:p.Trp2890Ser
XM_017009761.2:c.8669G>C	XP_016865250.1:p.Trp2890Ser
XM_017009763.1:c.7865G>C	XP_016865252.1:p.Trp2622Ser
XM_017009765.1:c.7670G>C	XP_016865254.1:p.Trp2557Ser
XM_017009766.1:c.5501G>C	XP_016865255.1:p.Trp1834Ser
XM_024446183.1:c.8669G>C	XP_024301951.1:p.Trp2890Ser
XM_024446184.1:c.8540G>C	XP_024301952.1:p.Trp2847Ser
XM_024446185.1:c.8186G>C	XP_024301953.1:p.Trp2729Ser
XM_024446186.1:c.7865G>C	XP_024301954.1:p.Trp2622Ser
XR_001742208.1:n.9027G>C
XR_925644.2:n.9082G>C
NM_001384732.1:c.8858G>C MANE Select	NP_001371661.1:p.Trp2953Ser
NM_023073.4:c.8696G>C	NP_075561.3:p.Trp2899Ser