Canonical Allele Identifier: CA3237870

Gene: CPLANE1

Linked Data

• dbSNP Id: rs766933289
• ExAC: 5:37157442 T / TACA
• gnomAD v2: 5-37157442-T-TACA
• gnomAD v4: 5-37157340-T-TACA
• MyVariant Identifiers: chr5:g.37157442_37157443insACA (hg19) ; chr5:g.37157340_37157341insACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157341_37157342insCAA , CM000667.2:g.37157341_37157342insCAA	GRCh38
NC_000005.9:g.37157443_37157444insCAA , CM000667.1:g.37157443_37157444insCAA	GRCh37
NC_000005.8:g.37193200_37193201insCAA	NCBI36
NG_032772.1:g.97088_97089insTGT
NG_032772.2:g.97088_97089insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1090_1091insTGT
ENST00000651892.2:c.8091_8092insTGT MANE Select	ENSP00000498265.2:p.Pro2697_Thr2698insCys
ENST00000425232.6:c.7957+329_7957+330insTGT	ENSP00000389014.2:n.7957+329_7957+330insTGT
ENST00000508244.5:c.7957+329_7957+330insTGT	ENSP00000421690.1:n.7957+329_7957+330insTGT
ENST00000509849.5:c.5103_5104insTGT	ENSP00000426337.1:p.Pro1701_Thr1702insCys
ENST00000509957.5:n.333_334insTGT
ENST00000511210.5:n.382_383insTGT
ENST00000511824.2:c.1205_1206insTGT
ENST00000514429.5:c.5155+329_5155+330insTGT	ENSP00000424223.1:n.5155+329_5155+330insTGT
ENST00000515380.1:n.343_344insTGT
NM_023073.3:c.7957+329_7957+330insTGT	NP_075561.3:n.7957+329_7957+330insTGT
XM_005248345.2:c.8091_8092insTGT	XP_005248402.1:p.Pro2697_Thr2698insCys
XM_005248346.2:c.8088_8089insTGT	XP_005248403.1:p.Pro2696_Thr2697insCys
XM_005248347.2:c.8088_8089insTGT	XP_005248404.1:p.Pro2696_Thr2697insCys
XM_005248349.2:c.8008+329_8008+330insTGT	XP_005248406.1:n.8008+329_8008+330insTGT
XM_005248350.2:c.7962_7963insTGT	XP_005248407.1:p.Pro2654_Thr2655insCys
XM_005248353.3:c.4734_4735insTGT	XP_005248410.1:p.Pro1578_Thr1579insCys
XM_006714489.2:c.8091_8092insTGT	XP_006714552.1:p.Pro2697_Thr2698insCys
XM_006714491.2:c.2664_2665insTGT	XP_006714554.1:p.Pro888_Thr889insCys
XM_011514085.1:c.8091_8092insTGT	XP_011512387.1:p.Pro2697_Thr2698insCys
XM_011514086.1:c.8091_8092insTGT	XP_011512388.1:p.Pro2697_Thr2698insCys
XM_011514087.1:c.8037_8038insTGT	XP_011512389.1:p.Pro2679_Thr2680insCys
XM_011514088.1:c.8011+329_8011+330insTGT	XP_011512390.1:n.8011+329_8011+330insTGT
XM_011514089.1:c.8091_8092insTGT	XP_011512391.1:p.Pro2697_Thr2698insCys
XM_011514090.1:c.7773_7774insTGT	XP_011512392.1:p.Pro2591_Thr2592insCys
XM_011514091.1:c.7419_7420insTGT	XP_011512393.1:p.Pro2473_Thr2474insCys
XM_011514092.1:c.8091_8092insTGT	XP_011512394.1:p.Pro2697_Thr2698insCys
XM_011514094.1:c.5316_5317insTGT	XP_011512396.1:p.Pro1772_Thr1773insCys
XR_427661.2:n.8266_8267insTGT
XR_925644.1:n.8266_8267insTGT
XM_005248345.4:c.8091_8092insTGT	XP_005248402.1:p.Pro2697_Thr2698insCys
XM_005248346.4:c.8088_8089insTGT	XP_005248403.1:p.Pro2696_Thr2697insCys
XM_005248347.4:c.8088_8089insTGT	XP_005248404.1:p.Pro2696_Thr2697insCys
XM_005248349.4:c.8008+329_8008+330insTGT	XP_005248406.1:n.8008+329_8008+330insTGT
XM_005248350.4:c.7962_7963insTGT	XP_005248407.1:p.Pro2654_Thr2655insCys
XM_006714491.3:c.2664_2665insTGT	XP_006714554.1:p.Pro888_Thr889insCys
XM_011514085.3:c.8091_8092insTGT	XP_011512387.1:p.Pro2697_Thr2698insCys
XM_011514086.3:c.8091_8092insTGT	XP_011512388.1:p.Pro2697_Thr2698insCys
XM_011514087.2:c.8037_8038insTGT	XP_011512389.1:p.Pro2679_Thr2680insCys
XM_011514088.2:c.8011+329_8011+330insTGT	XP_011512390.1:n.8011+329_8011+330insTGT
XM_011514089.2:c.8091_8092insTGT	XP_011512391.1:p.Pro2697_Thr2698insCys
XM_011514090.3:c.7773_7774insTGT	XP_011512392.1:p.Pro2591_Thr2592insCys
XM_011514092.2:c.8091_8092insTGT	XP_011512394.1:p.Pro2697_Thr2698insCys
XM_011514094.2:c.5316_5317insTGT	XP_011512396.1:p.Pro1772_Thr1773insCys
XM_017009760.1:c.7902_7903insTGT	XP_016865249.1:p.Pro2634_Thr2635insCys
XM_017009761.2:c.7902_7903insTGT	XP_016865250.1:p.Pro2634_Thr2635insCys
XM_017009763.1:c.7098_7099insTGT	XP_016865252.1:p.Pro2366_Thr2367insCys
XM_017009765.1:c.6903_6904insTGT	XP_016865254.1:p.Pro2301_Thr2302insCys
XM_017009766.1:c.4734_4735insTGT	XP_016865255.1:p.Pro1578_Thr1579insCys
XM_024446183.1:c.7902_7903insTGT	XP_024301951.1:p.Pro2634_Thr2635insCys
XM_024446184.1:c.7773_7774insTGT	XP_024301952.1:p.Pro2591_Thr2592insCys
XM_024446185.1:c.7419_7420insTGT	XP_024301953.1:p.Pro2473_Thr2474insCys
XM_024446186.1:c.7098_7099insTGT	XP_024301954.1:p.Pro2366_Thr2367insCys
XR_001742208.1:n.8260_8261insTGT
XR_002956171.1:n.8206_8207insTGT
XR_925644.2:n.8315_8316insTGT
NM_001384732.1:c.8091_8092insTGT MANE Select	NP_001371661.1:p.Pro2697_Thr2698insCys
NM_023073.4:c.7957+329_7957+330insTGT	NP_075561.3:n.7957+329_7957+330insTGT