Canonical Allele Identifier: CA359498344

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1436064006
• gnomAD v2: 5-37125353-C-G
• gnomAD v4: 5-37125251-C-G
• MyVariant Identifiers: chr5:g.37125353C>G (hg19) ; chr5:g.37125251C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125251C>G , CM000667.2:g.37125251C>G	GRCh38
NC_000005.9:g.37125353C>G , CM000667.1:g.37125353C>G	GRCh37
NC_000005.8:g.37161110C>G	NCBI36
NG_032772.1:g.129178G>C
NG_032772.2:g.129178G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1950G>C
ENST00000651892.2:c.8951G>C MANE Select	ENSP00000498265.2:p.Ser2984Thr
ENST00000676160.1:n.812G>C
ENST00000425232.6:c.8789G>C	ENSP00000389014.2:p.Ser2930Thr
ENST00000508244.5:c.8789G>C	ENSP00000421690.1:p.Ser2930Thr
ENST00000509849.5:c.5963G>C	ENSP00000426337.1:n.5963G>C
ENST00000509957.5:n.4132G>C
ENST00000512288.5:n.342-3467G>C
ENST00000514429.5:c.5987G>C	ENSP00000424223.1:p.Ser1996Thr
NM_023073.3:c.8789G>C	NP_075561.3:p.Ser2930Thr
XM_005248345.2:c.8951G>C	XP_005248402.1:p.Ser2984Thr
XM_005248346.2:c.8948G>C	XP_005248403.1:p.Ser2983Thr
XM_005248347.2:c.8948G>C	XP_005248404.1:p.Ser2983Thr
XM_005248349.2:c.8840G>C	XP_005248406.1:p.Ser2947Thr
XM_005248350.2:c.8822G>C	XP_005248407.1:p.Ser2941Thr
XM_005248353.3:c.5594G>C	XP_005248410.1:p.Ser1865Thr
XM_006714489.2:c.8951G>C	XP_006714552.1:p.Ser2984Thr
XM_006714491.2:c.3524G>C	XP_006714554.1:p.Ser1175Thr
XM_011514085.1:c.8951G>C	XP_011512387.1:p.Ser2984Thr
XM_011514086.1:c.8951G>C	XP_011512388.1:p.Ser2984Thr
XM_011514087.1:c.8897G>C	XP_011512389.1:p.Ser2966Thr
XM_011514088.1:c.8843G>C	XP_011512390.1:p.Ser2948Thr
XM_011514089.1:c.8951G>C	XP_011512391.1:p.Ser2984Thr
XM_011514090.1:c.8633G>C	XP_011512392.1:p.Ser2878Thr
XM_011514091.1:c.8279G>C	XP_011512393.1:p.Ser2760Thr
XM_011514092.1:c.8951G>C	XP_011512394.1:p.Ser2984Thr
XM_011514094.1:c.6176G>C	XP_011512396.1:p.Ser2059Thr
XR_427661.2:n.9126G>C
XR_925644.1:n.9126G>C
XM_005248345.4:c.8951G>C	XP_005248402.1:p.Ser2984Thr
XM_005248346.4:c.8948G>C	XP_005248403.1:p.Ser2983Thr
XM_005248347.4:c.8948G>C	XP_005248404.1:p.Ser2983Thr
XM_005248349.4:c.8840G>C	XP_005248406.1:p.Ser2947Thr
XM_005248350.4:c.8822G>C	XP_005248407.1:p.Ser2941Thr
XM_006714491.3:c.3524G>C	XP_006714554.1:p.Ser1175Thr
XM_011514085.3:c.8951G>C	XP_011512387.1:p.Ser2984Thr
XM_011514086.3:c.8951G>C	XP_011512388.1:p.Ser2984Thr
XM_011514087.2:c.8897G>C	XP_011512389.1:p.Ser2966Thr
XM_011514088.2:c.8843G>C	XP_011512390.1:p.Ser2948Thr
XM_011514089.2:c.8951G>C	XP_011512391.1:p.Ser2984Thr
XM_011514090.3:c.8633G>C	XP_011512392.1:p.Ser2878Thr
XM_011514092.2:c.8951G>C	XP_011512394.1:p.Ser2984Thr
XM_011514094.2:c.6176G>C	XP_011512396.1:p.Ser2059Thr
XM_017009760.1:c.8762G>C	XP_016865249.1:p.Ser2921Thr
XM_017009761.2:c.8762G>C	XP_016865250.1:p.Ser2921Thr
XM_017009763.1:c.7958G>C	XP_016865252.1:p.Ser2653Thr
XM_017009765.1:c.7763G>C	XP_016865254.1:p.Ser2588Thr
XM_017009766.1:c.5594G>C	XP_016865255.1:p.Ser1865Thr
XM_024446183.1:c.8762G>C	XP_024301951.1:p.Ser2921Thr
XM_024446184.1:c.8633G>C	XP_024301952.1:p.Ser2878Thr
XM_024446185.1:c.8279G>C	XP_024301953.1:p.Ser2760Thr
XM_024446186.1:c.7958G>C	XP_024301954.1:p.Ser2653Thr
XR_925644.2:n.9175G>C
NM_001384732.1:c.8951G>C MANE Select	NP_001371661.1:p.Ser2984Thr
NM_023073.4:c.8789G>C	NP_075561.3:p.Ser2930Thr