Canonical Allele Identifier: CA3237602

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 1199245
• ClinVar RCV Id: RCV001563680
• dbSNP Id: rs148987541
• ExAC: 5:37122550 A / G
• gnomAD v2: 5-37122550-A-G
• gnomAD v3: 5-37122448-A-G
• gnomAD v4: 5-37122448-A-G
• MyVariant Identifiers: chr5:g.37122550A>G (hg19) ; chr5:g.37122448A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122448A>G , CM000667.2:g.37122448A>G	GRCh38
NC_000005.9:g.37122550A>G , CM000667.1:g.37122550A>G	GRCh37
NC_000005.8:g.37158307A>G	NCBI36
NG_032772.1:g.131981T>C
NG_032772.2:g.131981T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.8999T>C MANE Select	ENSP00000498265.2:p.Met3000Thr
ENST00000676160.1:n.860T>C
ENST00000425232.6:c.8837T>C	ENSP00000389014.2:p.Met2946Thr
ENST00000508244.5:c.8837T>C	ENSP00000421690.1:p.Met2946Thr
ENST00000509849.5:c.6011T>C	ENSP00000426337.1:n.6011T>C
ENST00000512288.5:n.342-664T>C
ENST00000514429.5:c.6035T>C	ENSP00000424223.1:p.Met2012Thr
NM_023073.3:c.8837T>C	NP_075561.3:p.Met2946Thr
XM_005248345.2:c.8999T>C	XP_005248402.1:p.Met3000Thr
XM_005248346.2:c.8996T>C	XP_005248403.1:p.Met2999Thr
XM_005248347.2:c.8996T>C	XP_005248404.1:p.Met2999Thr
XM_005248349.2:c.8888T>C	XP_005248406.1:p.Met2963Thr
XM_005248350.2:c.8870T>C	XP_005248407.1:p.Met2957Thr
XM_005248353.3:c.5642T>C	XP_005248410.1:p.Met1881Thr
XM_006714489.2:c.8999T>C	XP_006714552.1:p.Met3000Thr
XM_006714491.2:c.3572T>C	XP_006714554.1:p.Met1191Thr
XM_011514085.1:c.8999T>C	XP_011512387.1:p.Met3000Thr
XM_011514086.1:c.8999T>C	XP_011512388.1:p.Met3000Thr
XM_011514087.1:c.8945T>C	XP_011512389.1:p.Met2982Thr
XM_011514088.1:c.8891T>C	XP_011512390.1:p.Met2964Thr
XM_011514089.1:c.8999T>C	XP_011512391.1:p.Met3000Thr
XM_011514090.1:c.8681T>C	XP_011512392.1:p.Met2894Thr
XM_011514091.1:c.8327T>C	XP_011512393.1:p.Met2776Thr
XM_011514092.1:c.8999T>C	XP_011512394.1:p.Met3000Thr
XM_011514094.1:c.6224T>C	XP_011512396.1:p.Met2075Thr
XR_427661.2:n.9174T>C
XR_925644.1:n.9174T>C
XM_005248345.4:c.8999T>C	XP_005248402.1:p.Met3000Thr
XM_005248346.4:c.8996T>C	XP_005248403.1:p.Met2999Thr
XM_005248347.4:c.8996T>C	XP_005248404.1:p.Met2999Thr
XM_005248349.4:c.8888T>C	XP_005248406.1:p.Met2963Thr
XM_005248350.4:c.8870T>C	XP_005248407.1:p.Met2957Thr
XM_006714491.3:c.3572T>C	XP_006714554.1:p.Met1191Thr
XM_011514085.3:c.8999T>C	XP_011512387.1:p.Met3000Thr
XM_011514086.3:c.8999T>C	XP_011512388.1:p.Met3000Thr
XM_011514087.2:c.8945T>C	XP_011512389.1:p.Met2982Thr
XM_011514088.2:c.8891T>C	XP_011512390.1:p.Met2964Thr
XM_011514089.2:c.8999T>C	XP_011512391.1:p.Met3000Thr
XM_011514090.3:c.8681T>C	XP_011512392.1:p.Met2894Thr
XM_011514092.2:c.8999T>C	XP_011512394.1:p.Met3000Thr
XM_011514094.2:c.6224T>C	XP_011512396.1:p.Met2075Thr
XM_017009760.1:c.8810T>C	XP_016865249.1:p.Met2937Thr
XM_017009761.2:c.8810T>C	XP_016865250.1:p.Met2937Thr
XM_017009763.1:c.8006T>C	XP_016865252.1:p.Met2669Thr
XM_017009765.1:c.7811T>C	XP_016865254.1:p.Met2604Thr
XM_017009766.1:c.5642T>C	XP_016865255.1:p.Met1881Thr
XM_024446183.1:c.8810T>C	XP_024301951.1:p.Met2937Thr
XM_024446184.1:c.8681T>C	XP_024301952.1:p.Met2894Thr
XM_024446185.1:c.8327T>C	XP_024301953.1:p.Met2776Thr
XM_024446186.1:c.8006T>C	XP_024301954.1:p.Met2669Thr
XR_925644.2:n.9223T>C
NM_001384732.1:c.8999T>C MANE Select	NP_001371661.1:p.Met3000Thr
NM_023073.4:c.8837T>C	NP_075561.3:p.Met2946Thr