Canonical Allele Identifier: CA568424

Gene: PER3

Linked Data

• dbSNP Id: rs228696
• ExAC: 1:7887493 T / C
• gnomAD v2: 1-7887493-T-C
• gnomAD v3: 1-7827433-T-C
• gnomAD v4: 1-7827433-T-C
• MyVariant Identifiers: chr1:g.7887493T>C (hg19) ; chr1:g.7827433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7827433T>C , CM000663.2:g.7827433T>C	GRCh38
NC_000001.10:g.7887493T>C , CM000663.1:g.7887493T>C	GRCh37
NC_000001.9:g.7810080T>C	NCBI36
NG_046850.1:g.48054T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377532.8:c.2504T>C MANE Select	ENSP00000366755.3:p.Leu835Pro
ENST00000361923.2:c.2480T>C	ENSP00000355031.2:p.Leu827Pro
ENST00000377532.7:c.2504T>C	ENSP00000366755.3:p.Leu835Pro
ENST00000613533.4:c.2504T>C	ENSP00000482093.1:p.Leu835Pro
ENST00000614998.4:c.2504T>C	ENSP00000479223.1:p.Leu835Pro
NM_001289861.1:c.2504T>C	NP_001276790.1:p.Leu835Pro
NM_001289862.1:c.2504T>C	NP_001276791.1:p.Leu835Pro
NM_001289863.1:c.2483T>C	NP_001276792.1:p.Leu828Pro
NM_001289864.1:c.1547T>C	NP_001276793.1:p.Leu516Pro
NM_016831.2:c.2480T>C	NP_058515.1:p.Leu827Pro
XM_005263521.2:c.2504T>C	XP_005263578.1:p.Leu835Pro
XM_005263522.2:c.2501T>C	XP_005263579.1:p.Leu834Pro
XM_005263523.2:c.2483T>C	XP_005263580.1:p.Leu828Pro
XM_005263524.2:c.2504T>C	XP_005263581.1:p.Leu835Pro
XM_005263529.2:c.1979T>C	XP_005263586.1:p.Leu660Pro
XM_011542384.1:c.2504T>C	XP_011540686.1:p.Leu835Pro
XM_011542385.1:c.2504T>C	XP_011540687.1:p.Leu835Pro
XM_011542386.1:c.2483T>C	XP_011540688.1:p.Leu828Pro
XM_011542387.1:c.2336T>C	XP_011540689.1:p.Leu779Pro
XM_011542388.1:c.2156T>C	XP_011540690.1:p.Leu719Pro
XM_011542389.1:c.2141T>C	XP_011540691.1:p.Leu714Pro
XM_011542390.1:c.2483T>C	XP_011540692.1:p.Leu828Pro
XM_005263524.4:c.2504T>C	XP_005263581.1:p.Leu835Pro
XM_017002723.2:c.2501T>C	XP_016858212.1:p.Leu834Pro
XM_017002724.2:c.2501T>C	XP_016858213.1:p.Leu834Pro
XM_017002726.2:c.2480T>C	XP_016858215.1:p.Leu827Pro
XM_017002727.1:c.2336T>C	XP_016858216.1:p.Leu779Pro
XM_017002728.1:c.2156T>C	XP_016858217.1:p.Leu719Pro
XM_017002729.1:c.2141T>C	XP_016858218.1:p.Leu714Pro
XM_017002730.2:c.2156T>C	XP_016858219.1:p.Leu719Pro
XM_017002731.2:c.2135T>C	XP_016858220.1:p.Leu712Pro
XM_017002732.1:c.2135T>C	XP_016858221.1:p.Leu712Pro
XM_017002733.2:c.1979T>C	XP_016858222.1:p.Leu660Pro
XM_017002734.1:c.1979T>C	XP_016858223.1:p.Leu660Pro
XM_017002735.2:c.1979T>C	XP_016858224.1:p.Leu660Pro
XM_017002737.1:c.1112T>C	XP_016858226.1:p.Leu371Pro
XM_017002738.2:c.1112T>C	XP_016858227.1:p.Leu371Pro
XM_024450585.1:c.2504T>C	XP_024306353.1:p.Leu835Pro
XM_024450586.1:c.2504T>C	XP_024306354.1:p.Leu835Pro
XM_024450587.1:c.2483T>C	XP_024306355.1:p.Leu828Pro
XM_024450588.1:c.2483T>C	XP_024306356.1:p.Leu828Pro
XM_024450590.1:c.2480T>C	XP_024306358.1:p.Leu827Pro
XM_024450611.1:c.1958T>C	XP_024306379.1:p.Leu653Pro
XM_024450612.1:c.1958T>C	XP_024306380.1:p.Leu653Pro
NM_001289861.2:c.2504T>C	NP_001276790.1:p.Leu835Pro
NM_001289862.2:c.2504T>C	NP_001276791.1:p.Leu835Pro
NM_001289863.3:c.2483T>C	NP_001276792.1:p.Leu828Pro
NM_001289864.3:c.1547T>C	NP_001276793.1:p.Leu516Pro
NM_001377275.1:c.2504T>C MANE Select	NP_001364204.1:p.Leu835Pro
NM_001377276.1:c.2483T>C	NP_001364205.1:p.Leu828Pro
NM_016831.4:c.2480T>C	NP_058515.1:p.Leu827Pro